Synonym(s): - MOPD type II
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PCNT	O95613	605925

- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Delayed bone age
- Epiphyseal anomaly
- Fine hair
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intrauterine growth retardation
- Long / large / bulbous nose
- Metaphyseal anomaly
- Microcephaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Small / hypoplastic / adherent / absent ear lobe

- Absent / decreased / thin eyebrows
- Broad cheeks / cherub-like / cherubin face
- Broad nasal root
- Cafe-au-lait spot
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Complete / partial microdontia
- Dry / squaly skin / exfoliation
- Hyperextensible joints / articular hyperlaxity
- Irregular / patchy skin hypopigmentation
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Sensorineural deafness / hearing loss
- Thin / hypoplastic ala nasi
- Truncal obesity

- Anaemia
- Arterial aneurism (excluding aorta)
- Arterial stenosis / occlusion
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Cerebral vascular anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperactivity / attention deficit
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Patent ductus arteriosus
- Precocious puberty
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tracheal atresia / stenosis
- Transient cerebral ischemia / stroke