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Items: 2

1.

Short distal phalanx of the 5th toe

Developmental hypoplasia of the distal phalanx of little toe. [from HPO]

MedGen UID:
866659
Concept ID:
C4021006
Anatomical Abnormality
2.

Coffin-Siris syndrome 1

Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. [from GeneReviews]

MedGen UID:
482831
Concept ID:
C3281201
Disease or Syndrome

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