Nail-patella syndrome

Orpha code: 2614OMIM code: 161200

Definition

A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
Onychoosteodysplasia
Onychoosteodysplazja
Zespół Turnera i Kiesera
Turner-Kieser syndrome
ORPHA code
2614
OMIM code
161200
ICD10 code
Q87.2
ICD11 code
LD24.J0

No additional description.

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