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.