Hypotrichosis-intellectual disability, Lopes type

Orpha code: 2266OMIM code:

Definition

A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.

Disease data
Classification

Disease

Synonyms
Lopes-Marques de Faria syndrome
Zespół Lopesa i Marques de Faria
ORPHA code
2266
OMIM code
-
ICD10 code
Q82.4
ICD11 code
-

No additional description.

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