Phenotypes associated with the disease autosomal dominant popliteal pterygium syndrome (OMIM:119500):
- 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: PCS. Frequency: 6/6. (PMID:12219090)
- Hypoplasia of the vagina (HP:0008726): Developmental hypoplasia of the vagina. Evidence: IEA. (OMIM:119500)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:20803643)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: IEA. (OMIM:119500)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: IEA. (OMIM:119500)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:119500)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: IEA. (OMIM:119500)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 2/6. (PMID:20803643)
- Lower lip pit (HP:0000196): Depression located on the vermilion of the lower lip, usually paramedian. Evidence: PCS. Frequency: 1/6. (PMID:12219090)
- 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: PCS. Frequency: 3/6. (PMID:12219090)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: IEA. (OMIM:119500)
- Ankyloblepharon (HP:0009755): Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. Evidence: IEA. (OMIM:119500)
- Fibrous syngnathia (HP:0009754): Complete or nearly complete soft tissue fusion of the alveolar ridges. Evidence: PCS. Frequency: 2/6. (PMID:12219090)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:119500)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 1/2. (PMID:20803643)
- Intercrural pterygium (HP:0009757): A pterygium (or pterygia) in the intercrural (groin) region. Evidence: IEA. (OMIM:119500)
- Popliteal pterygium (HP:0009756): A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). Evidence: PCS. Frequency: 3/6. (PMID:12219090)
- 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:12219090)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. Frequency: 3/6. (PMID:12219090)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:119500)
- Pyramidal skinfold extending from the base to the top of the nails (HP:0009758): Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. Evidence: IEA. (OMIM:119500)