Phenotypes associated with the disease Fuhrmann syndrome (OMIM:228930):
- Congenital hip dislocation (HP:0001374). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Amenorrhea (HP:0000141): Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Evidence: TAS. (OMIM:228930)
- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Foot oligodactyly (HP:0001849): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia of the fibula (HP:0006492): Absence or underdevelopment of the fibula. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: TAS. (OMIM:228930)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:228930)
- Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767): Small or missing phalangeal bones of the fingers of the hand. Evidence: TAS. (OMIM:228930)
- Aplasia/Hypoplasia of metatarsal bones (HP:0001964): Absence or underdevelopment of the metatarsal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: IEA. (OMIM:228930)
- Aplasia/Hypoplasia of the 5th finger (HP:0006262): A small/hypoplastic or absent/aplastic 5th finger. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Abnormal finger flexion crease (HP:0006143): Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Aplasia/Hypoplasia of fingers (HP:0006265): Small/hypoplastic or absent/aplastic fingers. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16826533)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:9128926)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Aplasia/hypoplasia of the femur (HP:0005613): Absence or underdevelopment of the femur. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:9128926)