Synonym(s): - CLPED1 - Cleft lip/palate-ectodermal dysplasia syndrome - Cleft lip/palate-syndactyly-pili torti - Syndactyly-ectodermal dysplasia-cleft/lip palate - Zlotogora-Zilberman-Tenenbaum syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease Entire classification		Classification (ICD10): (no data available)
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536726
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PVRL1	Q15223	600644

- Autosomal recessive inheritance
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Long / large ear
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Alopecia
- Broad nasal root
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Flat cheek bones / malar hypoplasia
- High arched eyebrows
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Lateral thinning of eyebrows
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Multiple caries
- Pili torti
- Prominent / bat ears
- Repeat respiratory infections
- Simian crease / transverse / unique palmar crease
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Synophris / synophrys
- Tooth shape anomaly

- Abnormal dermatoglyphics
- Anodontia / oligodontia / hypodontia
- Cryptophthalmia / ankyloblepharon / synblepharon
- EEG anomalies
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Lordosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis