From HPO
Syndactyly- MedGen UID:
- 52619
- •Concept ID:
- C0039075
- •
- Congenital Abnormality
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".
Triphalangeal thumb- MedGen UID:
- 66029
- •Concept ID:
- C0241397
- •
- Congenital Abnormality
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.
Ectrodactyly- MedGen UID:
- 78566
- •Concept ID:
- C0265554
- •
- Congenital Abnormality
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.
Split foot- MedGen UID:
- 140919
- •Concept ID:
- C0432028
- •
- Congenital Abnormality
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.
Aplasia/Hypoplasia involving the metacarpal bones- MedGen UID:
- 322855
- •Concept ID:
- C1836192
- •
- Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Aplasia/Hypoplasia of the phalanges of the hand- MedGen UID:
- 341279
- •Concept ID:
- C1848670
- •
- Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/Hypoplasia of metatarsal bones- MedGen UID:
- 348560
- •Concept ID:
- C1860182
- •
- Finding
Absence or underdevelopment of the metatarsal bones.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
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.
Aplasia/Hypoplasia of the phalanges of the toes- MedGen UID:
- 869559
- •Concept ID:
- C4023987
- •
- Finding