Camptodactyly Syndrome, Guadalajara, Type Ii

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OMIM 58 211920 MESH via Orphanet 46 C537971 ICD10 via Orphanet 35 Q87.1 UMLS via Orphanet 75 C2673861 C2931680

Orphanet 60 ORPHA1326 MedGen 43 C2673861 SNOMED-CT via HPO 70 122480009 157265008 199612005 202281000 22033007 237836003 248409006 249808002 258211005 271611007 275480001 298390003 312894000 32958008 391987005 397932003 40052002 415692008 423230008 43476002 44593008 69056000 78441005 95427009 95515009 more UMLS 74 C2931680

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1326Disease definitionCamptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.Visit the Orphanet disease page for more resources.

MalaCards based summary : Camptodactyly Syndrome, Guadalajara, Type Ii, is also known as camptodactyly syndrome guadalajara type 2. Affiliated tissues include bone, and related phenotypes are pectus excavatum and microcephaly

Description from OMIM: 211920

Clinical features from OMIM:

211920

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