1 (95.9%)
|
Postaxial acrofacial dysostosis
|
Eyelid coloboma
Hypoplasia of the radius
Hypoplasia of the ulna
Micrognathia
Non-midline cleft lip
Autosomal recessive inheritance
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Orphanet:246
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GTR:C0265257
|
2 (94.2%)
|
Nager syndrome
|
Aplasia/Hypoplasia of the thumb
Eyelid coloboma
Hypoplasia of the radius
Microretrognathia
Non-midline cleft lip
Autosomal dominant inheritance
A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Orphanet:245
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KEGG:H01376
GTR:C0265245
|
3 (90.5%)
|
Alagille syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short distal phalanx of finger
Short philtrum
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Orphanet:52
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GTR:C0085280
|
4 (89.8%)
|
Syndactyly-telecanthus-anogenital and renal malformations syndrome
|
Eyelid coloboma
Hypoplasia of the radius
Thin upper lip vermilion
X-linked dominant inheritance
This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Orphanet:140952
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KEGG:H01156
GTR:C2678045
|
5 (89.5%)
|
Acrofrontofacionasal dysostosis
|
Broad thumb
Eyelid coloboma
Micromelia
Non-midline cleft lip
Short distal phalanx of finger
Autosomal recessive inheritance
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Orphanet:1784
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GTR:C1860118
|
6 (88.3%)
|
Cenani-Lenz syndrome
|
Downslanted palpebral fissures
Foot oligodactyly
Hypoplasia of the ulna
Short philtrum
Short thumb
Autosomal recessive inheritance
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Orphanet:3258
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KEGG:H00853
GTR:C1859309
|
7 (87.9%)
|
Distal trisomy 5q
|
Absent thumb
Downslanted palpebral fissures
Hypoplasia of the ulna
Long philtrum
Micrognathia
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).
Orphanet:96097
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|
8 (87.8%)
|
Cleft lip/palate
|
Cryptophthalmos
Micrognathia
Overlapping fingers
Short long bone
Unilateral cleft lip
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
Orphanet:199306
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GTR:C0158646
|
9 (87.6%)
|
Bartsocas-Papas syndrome
|
Absent thumb
Eyelid coloboma
Median cleft lip
Micrognathia
Autosomal recessive inheritance
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Orphanet:1234
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KEGG:H01931
GTR:C1849718
|
9 (87.6%)
|
Goldenhar syndrome
|
Aplasia/Hypoplasia of the thumb
Micrognathia
Non-midline cleft lip
Upper eyelid coloboma
Autosomal dominant inheritance
Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
Orphanet:374
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GTR:C0265240
GTR:C0432130
|
9 (87.6%)
|
Choanal atresia
|
Absent thumb
Bilateral cleft lip
Lower eyelid coloboma
Micrognathia
Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.
Orphanet:137914
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GTR:C0008297
|
12 (87.3%)
|
Orofaciodigital syndrome type 10
|
Hypoplasia of proximal radius
Long philtrum
Micrognathia
Short 4th finger
Telecanthus
Autosomal dominant inheritance
Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.
Orphanet:2756
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GTR:C1833796
|
13 (86.8%)
|
Microtia
|
Bilateral cleft lip
Lower eyelid coloboma
Microretrognathia
Small hand
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.
Orphanet:83463
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GTR:C0152423
|
14 (86.8%)
|
Renal agenesis
|
Cryptophthalmos
Large hands
Median cleft lip
Microretrognathia
Short 4th metacarpal
Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).
Orphanet:411709
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GTR:C1609433
GTR:C0542519
GTR:C1619700
|
15 (86.4%)
|
Acro-renal-mandibular syndrome
|
Downslanted palpebral fissures
Hypoplasia of the radius
Hypoplasia of the ulna
Micrognathia
Short philtrum
Autosomal recessive inheritance
A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
Orphanet:958
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GTR:C1860166
|
16 (86.1%)
|
Oculocerebrocutaneous syndrome
|
Eyelid coloboma
Missing ribs
Oral cleft
Short distal phalanx of finger
Sporadic
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.
Orphanet:1647
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GTR:C0796092
GTR:C2931390
|
17 (85.1%)
|
Fanconi anemia
|
Aplasia/Hypoplasia of fingers
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Orphanet:84
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GTR:C0015625
|
18 (85.0%)
|
MOMO syndrome
|
Eyelid coloboma
Femoral bowing
Large hands
Short sternum
Thick upper lip vermilion
Autosomal dominant inheritance
Autosomal recessive inheritance
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Orphanet:2563
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GTR:C1834759
|
19 (84.9%)
|
Kabuki syndrome
|
Ablepharon
Lower lip pit
Micrognathia
Short middle phalanx of finger
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Orphanet:2322
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GTR:C0796004
|
20 (84.4%)
|
Jacobsen syndrome
|
Eyelid coloboma
Micrognathia
Short toe
Smooth philtrum
Sporadic
A multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
Orphanet:2308
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GTR:C0795841
|
21 (84.2%)
|
W syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Upper lip pit
X-linked inheritance
W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.
Orphanet:2804
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GTR:C0796110
|
22 (84.2%)
|
Omphalocele
|
Absent radius
Cryptophthalmos
Long philtrum
Micrognathia
Short femur
Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.
Orphanet:660
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GTR:C0795690
|
23 (84.2%)
|
Brachydactyly type A1
|
Brachydactyly
Hypoplasia of the ulna
Short foot
Short middle phalanx of finger
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
Orphanet:93388
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GTR:C1862151
|
24 (83.9%)
|
Wolf-Hirschhorn syndrome
|
Cleft upper lip
Epicanthus
Micrognathia
Short long bone
Short thumb
Autosomal dominant inheritance
Sporadic
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Orphanet:280
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KEGG:H01773
GTR:C1956097
|
25 (83.9%)
|
Branchioskeletogenital syndrome
|
Eyelid coloboma
Mandibular prognathia
Short philtrum
Upper limb peromelia
Autosomal recessive inheritance
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
Orphanet:1299
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GTR:C1859384
|
26 (83.9%)
|
Atelosteogenesis type II
|
Epicanthus
Micrognathia
Short metacarpal
Thin upper lip vermilion
Upper limb undergrowth
Autosomal recessive inheritance
A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Orphanet:56304
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KEGG:H00515
Gene Reviews
GTR:C1850554
GTR:C1850555
GTR:C0432203
|
27 (83.7%)
|
Duane retraction syndrome
|
Aplasia/Hypoplasia of the thumb
Epicanthus inversus
Everted lower lip vermilion
Hypoplasia of the radius
Micrognathia
A congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
Orphanet:233
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GTR:C0013261
|
28 (83.6%)
|
Holoprosencephaly-radial heart renal anomalies syndrome
|
Aplasia/Hypoplasia of the thumb
Hypoplasia of the ulna
Median cleft lip
Missing ribs
Autosomal dominant inheritance
Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
Orphanet:3186
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GTR:C1866649
|
29 (83.2%)
|
Mycophenolate mofetil embryopathy
|
Eyelid coloboma
Micrognathia
Oral cleft
Short palm
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.
Orphanet:268249
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|
30 (83.2%)
|
Cornelia de Lange syndrome
|
Blepharitis
Long philtrum
Micrognathia
Radioulnar synostosis
Short 1st metacarpal
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).
Orphanet:199
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GTR:C0270972
|
31 (83.2%)
|
17q24.2 microdeletion syndrome
|
Downslanted palpebral fissures
Micrognathia
Thin upper lip vermilion
Upper limb undergrowth
Orphanet:529962
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|
32 (83.1%)
|
Trichorhinophalangeal syndrome type 1 and 3
|
Long philtrum
Micrognathia
Short distal phalanx of finger
Short metatarsal
Sparse eyelashes
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
Orphanet:77258
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|
32 (83.1%)
|
8q24.3 microdeletion syndrome
|
Epicanthus
Microretrognathia
Short femur
Short middle phalanx of the 5th finger
Thin upper lip vermilion
Orphanet:508488
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|
32 (83.1%)
|
Interatrial communication
|
Epicanthus
Micrognathia
Short distal phalanx of the thumb
Short long bone
Smooth philtrum
Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.
Orphanet:1478
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GTR:C0018817
GTR:C2609256
|
35 (83.1%)
|
CHARGE syndrome
|
Brachydactyly
Cleft upper lip
Eyelid coloboma
Micrognathia
Autosomal dominant inheritance
Sporadic
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Orphanet:138
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KEGG:H00556
Gene Reviews
GTR:C0265354
|
36 (83.0%)
|
Intellectual disability, Wolff type
|
Broad thumb
Microretrognathia
Non-midline cleft lip
Short distal phalanx of finger
Upslanted palpebral fissure
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
Orphanet:3080
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GTR:C1848439
|
37 (82.8%)
|
3M syndrome
|
Hypoplasia of the ulna
Long philtrum
Micromelia
Thick eyebrow
Autosomal dominant inheritance
A primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
Orphanet:2616
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GTR:C1851996
GTR:C1848862
GTR:C2678312
|
38 (82.6%)
|
Isolated split hand-split foot malformation
|
Bilateral cleft lip
Fibular hypoplasia
Microretrognathia
Overlapping fingers
Upslanted palpebral fissure
Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.
Orphanet:2440
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GTR:C0265554
|
39 (82.2%)
|
Acrocraniofacial dysostosis
|
Downslanted palpebral fissures
Micrognathia
Short 1st metacarpal
Short distal phalanx of finger
Short philtrum
Autosomal recessive inheritance
A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
Orphanet:949
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GTR:C1860145
|
39 (82.2%)
|
Isolated oxycephaly
|
Blepharophimosis
Broad thumb
Micrognathia
Short finger
Smooth philtrum
Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
Orphanet:63440
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GTR:C0030044
|
39 (82.2%)
|
Yunis-Varon syndrome
|
Aplasia of the 1st metacarpal
Micrognathia
Short middle phalanx of finger
Short upper lip
Upslanted palpebral fissure
Autosomal recessive inheritance
Orphanet:3472
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KEGG:H02127
GTR:C1857663
|
42 (82.1%)
|
Polysyndactyly
|
Epicanthus
Fibular hypoplasia
Lip pit
Micrognathia
Short thumb
Autosomal dominant inheritance
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Orphanet:93338
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KEGG:H01226
GTR:C0265553
GTR:C1868111
|
43 (82.1%)
|
Gorlin-Chaudhry-Moss syndrome
|
Abnormality of the dentition
Hypoplasia of the maxilla
Short distal phalanx of finger
Upper eyelid coloboma
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Orphanet:2095
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GTR:C0345382
|
44 (82.1%)
|
IVIC syndrome
|
Aplastic clavicle
Hypoplasia of the radius
Rectovaginal fistula
Short thumb
Autosomal dominant inheritance
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
Orphanet:2307
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KEGG:H02283
GTR:C1327918
|
45 (82.0%)
|
Otomandibular syndrome
|
Cleft lip
Hemiatrophy
Micrognathia
Upper eyelid coloboma
A rare, otomandibular dysplasia characterized by asymmetric, predominantly unilateral hypoplasia of facial structures, typically involving the external ear, mandible, and ipsilateral facial soft tissues. It manifests with mild to severe facial asymmetry, micrognathia, microtia, slanted lip commissure and occlusal canting.
Orphanet:141136
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|
46 (81.9%)
|
Progressive non-infectious anterior vertebral fusion
|
Downslanted palpebral fissures
Large hands
Micrognathia
Proximal radio-ulnar synostosis
Short philtrum
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
Orphanet:2062
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|
47 (81.8%)
|
Wiedemann-Rautenstrauch syndrome
|
Large hands
Micrognathia
Short femur
Thin upper lip vermilion
Upslanted palpebral fissure
Autosomal recessive inheritance
Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
Orphanet:3455
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GTR:C0406586
|
48 (81.8%)
|
Fraser syndrome
|
Brachydactyly
Chronic sinusitis
Cleft upper lip
Cryptophthalmos
A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Orphanet:2052
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GTR:C0265233
|
49 (81.7%)
|
Oculodentodigital dysplasia
|
Brachydactyly
Cryptophthalmos
Median cleft lip
Micrognathia
Short hallux
Autosomal dominant inheritance
Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
Orphanet:2710
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KEGG:H00449
GTR:C0812437
|
50 (81.6%)
|
Tessier number 7 facial cleft
|
Ablepharon
Microretrognathia
Overlapping fingers
Smooth philtrum
Orphanet:141276
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GTR:C0024433
|
51 (81.6%)
|
Occipital horn syndrome
|
Aplastic clavicle
Deformed radius
Downslanted palpebral fissures
Long philtrum
Short palm
X-linked recessive inheritance
Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
Orphanet:198
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KEGG:H01859
Gene Reviews
GTR:C0268353
GTR:C1096660
|
52 (81.6%)
|
Schinzel-Giedion syndrome
|
Micrognathia
Radioulnar synostosis
Shallow orbits
Short distal phalanx of finger
Short philtrum
Autosomal dominant inheritance
Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Orphanet:798
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KEGG:H00922
GTR:C0265227
|
53 (81.5%)
|
Simpson-Golabi-Behmel syndrome
|
Broad thumb
Cleft upper lip
Epicanthus
Mandibular prognathia
Short 2nd finger
Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Orphanet:373
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GTR:C0796154
|
54 (81.5%)
|
Distal monosomy 12q
|
Downslanted palpebral fissures
Median cleft lip
Micrognathia
Short middle phalanx of finger
Orphanet:96149
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|
55 (81.3%)
|
Thrombocytopenia-absent radius syndrome
|
Absent radius
Aplasia/Hypoplasia of the ulna
Bilateral cleft lip
Cleft palate
Micrognathia
Autosomal recessive inheritance
Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
Orphanet:3320
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KEGG:H01847
Gene Reviews
GTR:C0175703
|
56 (81.3%)
|
Microphthalmia with limb anomalies
|
Blepharophimosis
Cleft upper lip
Hand oligodactyly
Micrognathia
Short long bone
Autosomal recessive inheritance
A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
Orphanet:1106
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KEGG:H02134
Gene Reviews
GTR:C0599973
|
56 (81.3%)
|
Orofaciodigital syndrome type 2
|
Adactyly
Median cleft lip
Micrognathia
Telecanthus
obsolete Shortening of the tibia
Autosomal recessive inheritance
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Orphanet:2751
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GTR:C0026363
GTR:C2931889
|
56 (81.3%)
|
Hydrops fetalis
|
Absent thumb
Bilateral cleft lip
Micrognathia
Narrow palpebral fissure
Short long bone
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
Orphanet:1041
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GTR:C0020305
|
59 (81.3%)
|
Ulbright-Hodes syndrome
|
Aplasia/Hypoplasia of the ulna
Long upper lip
Micrognathia
Narrow mouth
Short metacarpal
Autosomal recessive inheritance
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
Orphanet:3404
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GTR:C1849438
|
60 (81.2%)
|
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
|
Aplasia/Hypoplasia of the thumb
Hypoplasia of the ulna
Long philtrum
Autosomal dominant inheritance
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
Orphanet:2878
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GTR:C1868390
|
61 (81.0%)
|
X small rings
|
Epicanthus
Lower limb undergrowth
Thin upper lip vermilion
Upper limb undergrowth
X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.
Orphanet:96201
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|
62 (81.0%)
|
Roberts syndrome
|
Aplasia/Hypoplasia of the thumb
Cleft palate
Cleft upper lip
Hypoplasia of the radius
Micrognathia
Autosomal recessive inheritance
Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.
Orphanet:3103
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KEGG:H00572
Gene Reviews
GTR:C0392475
|
63 (81.0%)
|
Acro-renal-ocular syndrome
|
Epicanthus
Hypoplasia of the ulna
Short distal phalanx of the thumb
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome.
Orphanet:959
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|
64 (81.0%)
|
Juberg-Hayward syndrome
|
Abnormal eyebrow morphology
Hypoplasia of the radius
Oral cleft
Short thumb
Autosomal dominant inheritance
Autosomal recessive inheritance
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
Orphanet:2319
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GTR:C0796099
|
65 (80.8%)
|
Weaver syndrome
|
Broad thumb
Downslanted palpebral fissures
Large hands
Long philtrum
Micrognathia
Autosomal dominant inheritance
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Orphanet:3447
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KEGG:H01751
Gene Reviews
GTR:C0265210
|
66 (80.7%)
|
Distal monosomy 15q
|
Blepharophimosis
Micrognathia
Short finger
Thin upper lip vermilion
Sporadic
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Orphanet:1596
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GTR:C2675463
|
66 (80.7%)
|
Non-distal monosomy 20q
|
Epicanthus
Microretrognathia
Short middle phalanx of the 5th finger
Thin upper lip vermilion
Orphanet:96164
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|
66 (80.7%)
|
Coffin-Siris syndrome
|
Epicanthus
Micrognathia
Short distal phalanx of finger
Short philtrum
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Orphanet:1465
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GTR:C0265338
|
66 (80.7%)
|
Acroosteolysis dominant type
|
Downslanted palpebral fissures
Long philtrum
Micrognathia
Short distal phalanx of finger
Autosomal dominant inheritance
A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.
Orphanet:955
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KEGG:H00623
GTR:C0917715
GTR:C2930971
|
70 (80.7%)
|
Keipert syndrome
|
Broad distal phalanx of finger
Epicanthus
Exaggerated cupid's bow
Hypoplasia of the maxilla
Short distal phalanx of finger
Autosomal dominant inheritance
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
Orphanet:2662
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GTR:C1850627
|
71 (80.7%)
|
Trisomy 8p
|
Retrognathia
Short 1st metacarpal
Short fourth metatarsal
Thin vermilion border
Upslanted palpebral fissure
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
Orphanet:264450
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|
72 (80.6%)
|
Rothmund-Thomson syndrome
|
Abnormality of the ulna
Aplasia/Hypoplasia of the thumb
Epicanthus
Micrognathia
Short philtrum
Autosomal recessive inheritance
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
Orphanet:2909
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KEGG:H01734
Gene Reviews
GTR:C0032339
|
73 (80.5%)
|
Fibulo-ulnar hypoplasia-renal anomalies syndrome
|
Aplasia of the proximal phalanges of the hand
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Wide nasal bridge
Autosomal recessive inheritance
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
Orphanet:2256
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GTR:C1856727
|
73 (80.5%)
|
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
|
Aplasia/Hypoplasia of the thumb
Blepharophimosis
Hypoplasia of the ulna
Micrognathia
Wide nasal bridge
Autosomal recessive inheritance
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Orphanet:1352
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GTR:C1838606
|
75 (80.5%)
|
Pallister-Hall syndrome
|
Cleft lip
Downslanted palpebral fissures
Microretrognathia
Radial bowing
Short 4th metacarpal
Autosomal dominant inheritance
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
Orphanet:672
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KEGG:H00502
Gene Reviews
GTR:C0342418
GTR:C0265220
|
75 (80.5%)
|
Turner syndrome
|
Abnormal forearm bone morphology
Cleft lip
Epicanthus
Micrognathia
Short 4th metacarpal
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Orphanet:881
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GTR:C0242526
GTR:C0041408
|
77 (80.5%)
|
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
|
Epicanthus
Long philtrum
Micrognathia
Partial absence of thumb
Unilateral radial aplasia
Autosomal dominant inheritance
Orphanet:476126
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|
78 (80.4%)
|
TARP syndrome
|
Cleft palate
Hypoplasia of proximal radius
Micrognathia
Short palpebral fissure
X-linked inheritance
X-linked recessive inheritance
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
Orphanet:2886
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KEGG:H00943
GTR:C1839463
|
79 (80.4%)
|
Trisomy 13
|
Abnormal eyelash morphology
Median cleft lip
Meromelia
Micrognathia
Overlapping fingers
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Orphanet:3378
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GTR:C2936830
GTR:C0152095
|
79 (80.4%)
|
Holoprosencephaly
|
Epicanthus
Median cleft lip
Meromelia
Micrognathia
Overlapping fingers
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
Orphanet:2162
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GTR:C0079541
GTR:C3711749
|
81 (80.4%)
|
Contractures-developmental delay-Pierre Robin syndrome
|
Cleft palate
Downslanted palpebral fissures
Micrognathia
Radioulnar synostosis
Short thumb
Orphanet:436003
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|
82 (80.3%)
|
Treacher-Collins syndrome
|
Cleft upper lip
Eyelid coloboma
Micrognathia
Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
Orphanet:861
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GTR:C0242387
GTR:C0265241
|
83 (80.2%)
|
DOORS syndrome
|
11 pairs of ribs
Epicanthus
Short 5th finger
Thin upper lip vermilion
Autosomal recessive inheritance
DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.
Orphanet:79500
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KEGG:H02218
Gene Reviews
GTR:C0795927
|
84 (80.1%)
|
Lethal faciocardiomelic dysplasia
|
Hypoplasia of the ulna
Microretrognathia
Narrow mouth
Short 5th finger
Autosomal recessive inheritance
An extremely rare polymalformative syndrome.
Orphanet:1972
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GTR:C1856891
|
85 (80.0%)
|
Aarskog-Scott syndrome
|
Cleft upper lip
Epicanthus
Hypoplasia of the maxilla
Short finger
Short palm
X-linked recessive inheritance
A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Orphanet:915
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KEGG:H00569
GTR:C0175701
|
86 (79.8%)
|
Microcephalic osteodysplastic primordial dwarfism types I and III
|
Broad distal phalanx of finger
Downslanted palpebral fissures
Large hands
Micrognathia
Thick vermilion border
Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
Orphanet:2636
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|
87 (79.8%)
|
Tetralogy of Fallot
|
Brachydactyly
Epicanthus
Micrognathia
Radioulnar synostosis
Unilateral cleft lip
Autosomal dominant inheritance
Multifactorial inheritance
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Orphanet:3303
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KEGG:H00549
GTR:C0039685
|
88 (79.8%)
|
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
|
Blepharophimosis
Long philtrum
Micrognathia
Radioulnar synostosis
Short palm
Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Orphanet:171839
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GTR:C3267187
|
88 (79.8%)
|
Genitopatellar syndrome
|
Blepharophimosis
Long philtrum
Micrognathia
Radioulnar synostosis
Short palm
Autosomal dominant inheritance
Autosomal recessive inheritance
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Orphanet:85201
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KEGG:H01794
Gene Reviews
GTR:C1853566
|
88 (79.8%)
|
2q31.1 microdeletion syndrome
|
Abnormality of the ulna
Epicanthus
Long philtrum
Micrognathia
Short palm
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
Orphanet:251014
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|
91 (79.8%)
|
Duodenal atresia
|
Absent radius
Micrognathia
Short palpebral fissure
Unilateral cleft lip
Autosomal recessive inheritance
Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.
Orphanet:1203
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GTR:C0266174
|
92 (79.8%)
|
Acrodysostosis
|
Epicanthus
Hypoplasia of the ulna
Mandibular prognathia
Open mouth
Short metacarpal
A rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Orphanet:950
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GTR:C0220659
|
93 (79.7%)
|
Hypertelorism-hypospadias-polysyndactyly syndrome
|
Broad thumb
Eyelid coloboma
Large fontanelles
Long philtrum
Preaxial hand polydactyly
Autosomal recessive inheritance
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Orphanet:2211
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GTR:C1855904
|
94 (79.6%)
|
Coffin-Lowry syndrome
|
Epicanthus
Hypoplasia of the maxilla
Short distal phalanx of finger
Short metacarpal
Thick lower lip vermilion
X-linked dominant inheritance
Sporadic
Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.
Orphanet:192
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KEGG:H00574
Gene Reviews
GTR:C0265252
|
95 (79.6%)
|
Oculofaciocardiodental syndrome
|
Highly arched eyebrow
Long philtrum
Radioulnar synostosis
Short thumb
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
Orphanet:2712
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GTR:C1846265
GTR:C2931601
|
96 (79.6%)
|
Neu-Laxova syndrome
|
Abnormal eyelid morphology
Abnormality of the philtrum
Large hands
Micrognathia
Micromelia
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
Orphanet:2671
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GTR:C0265218
|
97 (79.6%)
|
Moebius syndrome
|
Abnormality of the ulna
Aplasia/Hypoplasia of the thumb
Epicanthus
Everted lower lip vermilion
Micrognathia
Autosomal dominant inheritance
Sporadic
A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
Orphanet:570
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KEGG:H01840
GTR:C0853240
GTR:C0221060
|
98 (79.5%)
|
Acrofacial dysostosis, Palagonia type
|
Abnormal eyelid morphology
Micrognathia
Short 4th metacarpal
Unilateral cleft lip
Autosomal dominant inheritance
A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
Orphanet:1787
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GTR:C1866168
|
99 (79.5%)
|
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
|
Aplasia/Hypoplasia of the frontal sinuses
Brachydactyly
Cleft palate
Eyelid coloboma
Autosomal recessive inheritance
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
Orphanet:306542
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|
100 (79.5%)
|
Oculoauriculofrontonasal syndrome
|
Broad philtrum
Micrognathia
Upper eyelid coloboma
Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.
Orphanet:398156
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GTR:C1832352
|