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.