41
(81.6%)

cranioectodermal dysplasia 1

Epicanthus Everted lower lip vermilion Fibular hypoplasia Short distal phalanx of finger Short ribs

Autosomal recessive inheritance

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.

42
(81.5%)

acrofrontofacionasal dysostosis

Cleft upper lip Long eyelashes Mandibular prognathia Short distal phalanx of finger Short metacarpal

Autosomal recessive inheritance

Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

43
(81.5%)

X-linked lethal multiple pterygium syndrome

Cleft upper lip Epicanthus Micrognathia Short finger

X-linked inheritance

X-linked form of lethal multiple pterygium syndrome.

43
(81.5%)

Fryns syndrome

Blepharophimosis Cleft upper lip Microretrognathia Short thumb

Autosomal recessive inheritance

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

43
(81.5%)

branchiooculofacial syndrome

Cleft upper lip Micrognathia Short thumb Telecanthus

Autosomal dominant inheritance

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

46
(81.4%)

Pallister-W syndrome

Downslanted palpebral fissures Hypoplasia of the ulna Submucous cleft hard palate

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.

47
(81.4%)

complex lethal osteochondrodysplasia

Fractured radius Micrognathia Short femur Telecanthus Unilateral cleft lip

Autosomal recessive inheritance

48
(81.3%)

Weaver syndrome

Epicanthus Large hands Long philtrum Short fourth metatarsal Short ribs

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.

49
(81.0%)

Duane-radial ray syndrome

Epicanthus Hypoplasia of the radius Hypoplasia of the ulna Short thumb

Autosomal dominant inheritance

A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

49
(81.0%)

Alagille syndrome due to a JAG1 point mutation

Hypoplasia of the ulna Short distal phalanx of finger Triangular face Upslanted palpebral fissure

Autosomal dominant inheritance

51
(81.0%)

Aarskog-Scott syndrome, X-linked

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the odontoid process Short 5th finger Short palm

X-linked recessive inheritance

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

51
(81.0%)

chromosome 1p36 deletion syndrome

11 pairs of ribs Cleft upper lip Epicanthus Short 5th finger

Sporadic

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

53
(80.9%)

Smith-Lemli-Opitz syndrome

Epicanthus Long philtrum Micrognathia Micromelia Short thumb

Autosomal recessive inheritance

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

54
(80.9%)

Neu-Laxova syndrome 1

Ablepharon Cleft upper lip Micrognathia Micromelia Radial deviation of finger

Autosomal recessive inheritance

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.

55
(80.8%)

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Broad thumb Cleft upper lip Short 5th finger Upslanted palpebral fissure

Autosomal dominant inheritance

55
(80.8%)

Simpson-Golabi-Behmel syndrome type 1

Broad thumb Epicanthus Short distal phalanx of finger Short foot Submucous cleft lip

X-linked recessive inheritance

Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.

57
(80.8%)

nevoid basal cell carcinoma syndrome

Cleft upper lip Orbital cyst Short 4th metacarpal Short distal phalanx of the thumb Short ribs

Autosomal dominant inheritance Heterogeneous

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.

58
(80.8%)

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Aplasia/Hypoplasia of the thumb Downslanted palpebral fissures Fibular hypoplasia Long philtrum Ulnar bowing

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.

59
(80.8%)

Marshall-Smith syndrome

Distal widening of metacarpals Short distal phalanx of finger Short mandibular rami Short philtrum Thick eyebrow

Autosomal dominant inheritance Sporadic

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

60
(80.7%)

syndromic X-linked intellectual disability Claes-Jensen type

Micrognathia Short distal phalanx of finger Thin upper lip vermilion Upslanted palpebral fissure

X-linked recessive inheritance