Phenotypes associated with the disease split hand-foot malformation 4 (OMIM:605289):
- Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173). Evidence: PCS. (PMID:10839977)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: TAS. (OMIM:605289)
- Ectrodactyly (HP:0100257): A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. Evidence: TAS. (OMIM:605289)
- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: IEA. (OMIM:605289)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: IEA. (OMIM:605289)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: PCS. (PMID:10839977)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: TAS. (OMIM:605289)
- Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767): Small or missing phalangeal bones of the fingers of the hand. Evidence: PCS. (PMID:10839977)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10839977)
- Aplasia/Hypoplasia of metatarsal bones (HP:0001964): Absence or underdevelopment of the metatarsal bones. Evidence: PCS. (PMID:10839977)