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Items: 3

1.

Short tarsus-absence of lower eyelashes syndrome

A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. [from SNOMEDCT_US]

MedGen UID:
325001
Concept ID:
C1838328
Disease or Syndrome
2.

Faundes-Banka syndrome

Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021). [from OMIM]

MedGen UID:
1782083
Concept ID:
C5543554
Disease or Syndrome
3.

Hypoplasia of the lower eyelids

Underdevelopment of the lower eyelid. [from HPO]

MedGen UID:
870370
Concept ID:
C4024814
Finding
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