1 (100.0%)
|
postaxial acrofacial dysostosis
|
Cleft upper lip
Eyelid coloboma
Hypoplasia of the ulna
Micrognathia
Short thumb
Autosomal recessive inheritance
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
OMIM:263750
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Monarch
GTR:C0265257
|
2 (94.2%)
|
Nager acrofacial dysostosis
|
Aplasia/Hypoplasia of the thumb
Cleft upper lip
Hypoplasia of the radius
Lower eyelid coloboma
Micrognathia
Autosomal dominant inheritance
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
OMIM:154400
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Monarch
KEGG:H01376
GTR:C0265245
|
3 (91.3%)
|
CHARGE syndrome
|
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short thumb
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).
OMIM:214800
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Monarch
KEGG:H00556
Gene Reviews
GTR:C0265354
|
4 (88.1%)
|
Diamond-Blackfan anemia 1
|
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the radius
Micrognathia
Short thumb
Autosomal dominant inheritance
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
OMIM:105650
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Monarch
KEGG:H00237
Gene Reviews
GTR:C2676137
|
5 (87.9%)
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
Epicanthus
Hand monodactyly
Hypoplasia of the ulna
Micrognathia
U-Shaped upper lip vermilion
Autosomal dominant inheritance
OMIM:609945
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Monarch
GTR:C1864965
|
6 (87.6%)
|
Roberts-SC phocomelia syndrome
|
Cleft upper lip
Eyelid coloboma
Hand oligodactyly
Micrognathia
Autosomal recessive inheritance
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
OMIM:268300
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Monarch
KEGG:H00572
Gene Reviews
|
7 (87.1%)
|
Fraser syndrome 1
|
Aplasia/Hypoplasia of the sternum
Aplasia/Hypoplasia of the thumb
Cleft upper lip
Upper eyelid coloboma
Autosomal recessive inheritance
OMIM:219000
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Monarch
KEGG:H00687
|
8 (86.9%)
|
spondyloepiphyseal dysplasia with congenital joint dislocations
|
Hypoplasia of the ulna
Long philtrum
Short distal phalanx of finger
Sparse and thin eyebrow
Autosomal recessive inheritance
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
OMIM:143095
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Monarch
KEGG:H00762
Gene Reviews
|
9 (86.4%)
|
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:615162
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Monarch
GTR:C3554609
|
10 (85.5%)
|
Cornelia de Lange syndrome 1
|
Cleft upper lip
Hand oligodactyly
Hypoplasia of the radius
Long eyelashes
Micrognathia
Autosomal dominant inheritance
Sporadic
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
OMIM:122470
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Monarch
KEGG:H00631
Gene Reviews
GTR:CN029798
|