Short rib-polydactyly syndrome

Description

Short rib-polydactyly syndromes are a group of bone malformations characterised by a narrow thorax and polydactyly (usually preaxial). Prevalence as a group is unknown. The group is heterogeneous and includes Jeune syndrome and Ellis-Van Creveld syndrome, neither of which are lethal, together with lethal chondrodysplasias: Saldino-Noonan (type 1), Majewski (type 2), Verma-Naumoff (type 3) and Beemer-Langer (type 4).

Index terms

Short rib-polydactyly syndrome
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type

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Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Beemer-Langer type

Exclusions from above levels

LD25.00 – Oral-facial-digital syndrome type 4
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD24.B1 – Asphyxiating thoracic dystrophy
LD24.BY – Other specified short rib syndromes
LD24.BZ – Short rib syndromes, unspecified

Foundation entity

Short rib-polydactyly syndrome – http://id.who.int/icd/entity/960900212

Part of: LD24.B: Short rib syndromes › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies