Phenotypes associated with the disease Tibial aplasia-ectrodactyly syndrome (ORPHA:3329):
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3329)
- Preaxial hand polydactyly (HP:0001177): Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3329)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Abnormal fibula morphology (HP:0002991): An anomaly of the calf bone (fibula), one of the two bones of the calf. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Aplasia/Hypoplasia of the tibia (HP:0005772): Absence or underdevelopment of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3329)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- Popliteal pterygium (HP:0009756): A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3329)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:3329)