Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies

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OMIM 56 601027 MESH via Orphanet 44 C536918 UMLS via Orphanet 72 C2931368

Orphanet 58 ORPHA3328 MedGen 41 C1832859 SNOMED-CT via HPO 68 230790004 249808002 258211005 33595009 397932003 702613006 72424001 80281008 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3328 Definition Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one female). Clinical description The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Genetic counseling Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance. Visit the Orphanet disease page for more resources.

MalaCards based summary : Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies, also known as absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies, is related to arachnoid cysts, intracranial and polydactyly. Affiliated tissues include bone, and related phenotypes are talipes equinovarus and cleft upper lip

More information from OMIM: 601027

Clinical features from OMIM:

601027

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