Thin ribs-tubular bones-dysmorphism syndrome

Orpha code: 1506OMIM code:

Definition

An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.

Disease data
Classification

Malformation syndrome

Synonyms
Sharma-Kapoor-Ramji syndrome
Zespół Sharma, Kapoor i Ramji
ORPHA code
1506
OMIM code
-
ICD10 code
Q87.5
ICD11 code
-

No additional description.

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