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
|
101 (79.5%)
|
Poland syndrome
|
Abnormality of the ulna
Cleft lip
Retinal hamartoma
Short finger
Short ribs
Autosomal dominant inheritance
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
Orphanet:2911
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GTR:C0032357
|
102 (79.4%)
|
Cranioectodermal dysplasia
|
Epicanthus
Everted lower lip vermilion
Rhizomelia
Short finger
Short ribs
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Orphanet:1515
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GTR:C0432235
|
103 (79.4%)
|
Spondyloperipheral dysplasia-short ulna syndrome
|
Hypoplasia of the ulna
Micromelia
Pectus carinatum
Short metacarpal
Autosomal dominant inheritance
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
Orphanet:1856
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GTR:C0796173
|
104 (79.3%)
|
Ring chromosome 7 syndrome
|
Epicanthus
Mandibular prognathia
Short 5th finger
Short philtrum
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
Orphanet:1449
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GTR:C0795818
GTR:C2931622
|
105 (79.2%)
|
Phocomelia, Schinzel type
|
Aplasia of the ulna
Cleft palate
Hand oligodactyly
Micrognathia
Autosomal recessive inheritance
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
Orphanet:2879
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KEGG:H00847
|
106 (79.1%)
|
Hypoglossia-hypodactyly syndrome
|
Aplasia/Hypoplasia of fingers
Cleft lip
Micrognathia
Short distal phalanx of finger
Telecanthus
Autosomal dominant inheritance
Sporadic
A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.
Orphanet:989
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GTR:C1863203
GTR:C0595985
|
107 (79.1%)
|
Aminopterin/methotrexate embryofetopathy
|
Aplasia/Hypoplasia of the thumb
Epicanthus
Micrognathia
Micromelia
Non-midline cleft lip
A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
Orphanet:1908
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GTR:C0432367
|
108 (79.0%)
|
Ruvalcaba syndrome
|
Downslanted palpebral fissures
Micromelia
Short finger
Short metacarpal
Thin vermilion border
Autosomal dominant inheritance
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Orphanet:3121
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GTR:C0265248
|
109 (79.0%)
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Smith-Lemli-Opitz syndrome
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Aplasia/Hypoplasia of the radius
Epicanthus
Long philtrum
Micrognathia
Autosomal recessive inheritance
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Orphanet:818
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KEGG:H00161
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GTR:C0175694
GTR:C2713347
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110 (78.9%)
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Saethre-Chotzen syndrome
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Cleft palate
Epicanthus
Hypoplasia of the maxilla
Proximal radio-ulnar synostosis
Short finger
Autosomal dominant inheritance
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
Orphanet:794
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KEGG:H01991
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GTR:C0175699
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111 (78.8%)
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Oligodontia
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Brachydactyly
Broad thumb
Long eyelashes
Micrognathia
Unilateral cleft lip
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
Orphanet:99798
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112 (78.7%)
|
Blomstrand lethal chondrodysplasia
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Long philtrum
Micrognathia
Short metacarpal
Telecanthus
Autosomal recessive inheritance
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Orphanet:50945
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KEGG:H00508
GTR:C1859148
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113 (78.6%)
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Brachytelephalangy-dysmorphism-Kallmann syndrome
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Short distal phalanx of finger
Telecanthus
Thin upper lip vermilion
Autosomal dominant inheritance
Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
Orphanet:1295
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GTR:C2931421
|
113 (78.6%)
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Char syndrome
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Downslanted palpebral fissures
Short middle phalanx of the 5th finger
Short philtrum
Autosomal dominant inheritance
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).
Orphanet:46627
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KEGG:H00555
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GTR:C1868570
|
113 (78.6%)
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Hypertrichotic osteochondrodysplasia, Cantu type
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Epicanthus
Long philtrum
Short distal phalanx of finger
Autosomal dominant inheritance
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Orphanet:1517
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GTR:C0795905
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113 (78.6%)
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Distal 22q11.2 microdeletion syndrome
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Blepharophimosis
Short distal phalanx of finger
Short palm
Thin upper lip vermilion
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
Orphanet:261330
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GTR:C2678480
|
117 (78.4%)
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Ulnar hypoplasia-split foot syndrome
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Hypoplasia of the ulna
Split hand
X-linked recessive inheritance
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
Orphanet:1122
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GTR:C1839123
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117 (78.4%)
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Upper limb mesomelic dysplasia
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Fibular aplasia
Hypoplasia of the ulna
Radial bowing
Autosomal dominant inheritance
This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.
Orphanet:2497
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GTR:C1860614
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117 (78.4%)
|
Mesomelic dwarfism, Reinhardt-Pfeiffer type
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Hypoplasia of the ulna
Micromelia
Strabismus
Autosomal dominant inheritance
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
Orphanet:2634
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GTR:C1860616
|
120 (78.4%)
|
Acromegaly
|
Large hands
Mandibular prognathia
Palpebral edema
Short 5th metacarpal
Thick lower lip vermilion
An acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
Orphanet:963
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GTR:C0001206
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