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Items: 2

1.

Frontorhiny

A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. [from SNOMEDCT_US]

MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
2.

Pectoral muscle hypoplasia/aplasia

MedGen UID:
870769
Concept ID:
C4025226
Anatomical Abnormality

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