- 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: IEA. (DECIPHER:46)
- 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. (DECIPHER:46)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: IEA. (DECIPHER:46)
- Abnormality of the urinary system (HP:0000079): An abnormality of the urinary system. Evidence: IEA. (DECIPHER:46)
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: IEA. (DECIPHER:46)
- Median cleft upper lip (HP:0000161): A type of cleft lip presenting as a midline (median) gap in the upper lip. Evidence: IEA. (DECIPHER:46)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (DECIPHER:46)
- 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. (DECIPHER:46)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: IEA. (DECIPHER:46)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: IEA. (DECIPHER:46)
- 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. (DECIPHER:46)
These phenotypes are associated with the disease split hand-foot malformation 1 (DECIPHER:46).