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.