OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome

Orpha code: 2292OMIM code: 264050

Definicja

A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Wrodzony zespół wygięcia kości długich, niskiego wzrostu, dolichomakrocefalii i hiperteloryzmu ocznego
Kod ORPHA
2292
Kod OMIM
264050
Kod ICD10
Q68.5
Kod ICD11
LB96.1

No additional description.

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