Frank-Ter Haar syndrome

Orpha code: 137834OMIM code: 249420

Definition

A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

Disease data
Classification

Disease

Synonyms
Ter Haar syndrome
Zespół Ter Haara
ORPHA code
137834
OMIM code
249420
ICD10 code
Q87.8
ICD11 code
LD25.1

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl