Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly (FUHRS)

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Disease Ontology 12 DOID:0090067 OMIM® 57 228930 KEGG 36 H00846 MeSH 44 C538189 ICD10 32 Q74.8 MESH via Orphanet 45 C538189

ICD10 via Orphanet 33 Q74.8 UMLS via Orphanet 71 C1856728 Orphanet 58 ORPHA2854 MedGen 41 C1856728 SNOMED-CT via HPO 68 17268007 205131007 205170001 237836003 249769001 249808002 249820005 258211005 268251006 276662009 32113001 34048007 367510009 397932003 48334007 52781008 71358006 93288001 more UMLS 70 C1856728

GARD : ²⁰ Fuhrmann syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of Fuhrmann syndrome are present from birth and may include bowing of the femurs (the upper bones of the legs), having no fibula (lower bone of the leg) or a smaller fibula than usual, and having more fingers or toes than normal ( polydactyly ) or fewer fingers or toes than normal (oligodactyly). Fuhrmann syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Fuhrmann syndrome depends on the specific symptoms of each affected person, but may include surgical options.

MalaCards based summary : Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly, also known as fuhrmann syndrome, is related to du pan syndrome and chromosome 2q35 duplication syndrome. An important gene associated with Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly is WNT7A (Wnt Family Member 7A), and among its related pathways/superpathways are Signaling by Wnt and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include brain and uterus, and related phenotypes are hypoplasia of the radius and aplasia/hypoplasia of the ulna

Disease Ontology : ¹² A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has material basis in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.

KEGG : ³⁶ Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.

UniProtKB/Swiss-Prot : ⁷² Fuhrmann syndrome: Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.

More information from OMIM: 228930

Clinical features from OMIM®:

228930 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly

Search GEO for disease gene expression data for Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly.