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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.).

31
(83.2%)

17q24.2 microdeletion syndrome

Downslanted palpebral fissures Micrognathia Thin upper lip vermilion Upper limb undergrowth

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.

32
(83.1%)

8q24.3 microdeletion syndrome

Epicanthus Microretrognathia Short femur Short middle phalanx of the 5th finger Thin upper lip vermilion

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.

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).

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

48
(81.8%)

Fraser syndrome

Brachydactyly Chronic sinusitis Cleft upper lip Cryptophthalmos

A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

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.

50
(81.6%)

Tessier number 7 facial cleft

Ablepharon Microretrognathia Overlapping fingers Smooth philtrum

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.

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.

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.

54
(81.5%)

Distal monosomy 12q

Downslanted palpebral fissures Median cleft lip Micrognathia Short middle phalanx of finger

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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.

66
(80.7%)

Non-distal monosomy 20q

Epicanthus Microretrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

81
(80.4%)

Contractures-developmental delay-Pierre Robin syndrome

Cleft palate Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short thumb

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.

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.

84
(80.1%)

Lethal faciocardiomelic dysplasia

Hypoplasia of the ulna Microretrognathia Narrow mouth Short 5th finger

Autosomal recessive inheritance

An extremely rare polymalformative syndrome.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.