9 (87.6%)
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Choanal atresia
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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.
Orphanet:137914
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GTR:C0008297
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12 (87.3%)
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Orofaciodigital syndrome type 10
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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.
Orphanet:2756
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GTR:C1833796
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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.
Orphanet:83463
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GTR:C0152423
|
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).
Orphanet:411709
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GTR:C1609433
GTR:C0542519
GTR:C1619700
|
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.
Orphanet:958
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GTR:C1860166
|
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.
Orphanet:1647
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GTR:C0796092
GTR:C2931390
|
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.
Orphanet:84
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GTR:C0015625
|
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.
Orphanet:2563
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GTR:C1834759
|
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.
Orphanet:2322
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GTR:C0796004
|
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.
Orphanet:2308
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GTR:C0795841
|