Split-Hand/foot Malformation with Long Bone Deficiency 1 (SHFLD)

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OMIM 57 119100 MedGen 42 C1861553

SNOMED-CT via HPO 69 263681008 299034005 205358006 UMLS 73 C1861553

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3329Disease definitionTibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.EpidemiologyThe incidence is estimated to be approximately 1 in 1,000,000 live births.Clinical descriptionThe expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.EtiologyTwo susceptibilityloci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.Differential diagnosisOverlap with the Gollop-Wolfgang syndrome (see this term) has been described.Genetic counselingThe syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.Visit the Orphanet disease page for more resources.

MalaCards based summary : Split-Hand/foot Malformation with Long Bone Deficiency 1, also known as split-hand/foot malformation with long bone deficiency, is related to split-hand/foot malformation with long bone deficiency 2 and chromosome 17p13.3, telomeric, duplication syndrome. An important gene associated with Split-Hand/foot Malformation with Long Bone Deficiency 1 is SHFL1 (Split-Hand/Foot Malformation With Long Bone Deficiency 1). Affiliated tissues include bone, and related phenotypes are cupped ear and split hand

Description from OMIM: 119100

Clinical features from OMIM:

119100

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation with Long Bone Deficiency 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation with Long Bone Deficiency 1.