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PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.

ORPHA:589905

Classification level: Disorder
  • Synonym(s):
    • Chung-Jansen syndrome
    • DIDOD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 617991
  • UMLS: C4693860
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.