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Items: 3

1.

Cardiac, facial, and digital anomalies with developmental delay

CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018). [from OMIM]

MedGen UID:
1648330
Concept ID:
C4748484
Disease or Syndrome
2.

Abnormal number of hair whorls

More than two clockwise hair whorls. [from HPO]

MedGen UID:
869269
Concept ID:
C4023695
Finding
3.

Craniofacial dysplasia - osteopenia syndrome

A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. [from SNOMEDCT_US]

MedGen UID:
370148
Concept ID:
C1970027
Disease or Syndrome

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