Phenotypes associated with the disease multiple synostoses syndrome 3 (OMIM:612961):
- Metatarsal synostosis (HP:0001440). Evidence: PCS. (PMID:19589401)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:612961)
- Cutaneous syndactyly of toes (HP:0010621): A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: PCS. (PMID:19589401)
- Hallux varus (HP:0008080): Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- Limited interphalangeal movement (HP:0006064). Evidence: PCS. (PMID:19589401)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: PCS. (PMID:19589401)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- Metacarpal synostosis (HP:0009701): Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). Evidence: PCS. (PMID:19589401)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:612961)
- 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:19589401)