PHGDH

Clinical Characteristics

Mutations in PHGDH may cause the following clinical manifestations:

Head

  • Microcephaly

Neck

  • Short neck

Face

  • Sloping forehead
  • Micrognathia
  • Protruding eyes
  • Hypertelorism
  • Cataract
  • Nystagmus
  • Absent eyelids
  • Microphthalmia
  • Absent eyelashes
  • Large ears
  • Flattened nose
  • Thick lips
  • Gaping mouth
  • Cleft palate
  • Cleft lip

Cardiovascular

  • Ventriculoseptal defect
  • Atrial septal defect
  • Patent foramen ovale
  • Patent ductus arteriosus
  • Transposition of great vessels

Respiratory

  • Pulmonary hypoplasia

Skeletal

  • Short limbs
  • Joint contractures
  • Pterygia
  • Syndactyly
  • Camptodactyly
  • Clinodactyly
  • Puffiness of hands and feet
  • Poorly mineralized bones

Skin

  • Yellow subcutaneous tissue covered by thin, scaly skin
  • Absent eyelashes
  • Absent scalp hair

Central Nervous System

  • Lissencephaly
  • Agenesis of corpus callosum
  • Cerebellar hypoplasia
  • Absence of olfactory bulbs
  • Spina bifida
  • Hydranencephaly
  • Dandy-walker malformation
  • Choroid plexus cyst
  • Seizures

Other

  • Polyhydramnios
  • Short umbilical cord
  • Small placenta
  • Stillborn or die in immediate neonatal period