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FG syndrome type 1

Disease definition

A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behavior (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others.

ORPHA:93932

Classification level: Disorder
  • Synonym(s):
    • Opitz-Kaveggia syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • ICD-11: LD2F.1Y
  • OMIM: 305450
  • UMLS: C0220769
  • MeSH: C537923
  • GARD: -
  • MedDRA: -

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

Detailed information

General public

Disease review articles

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

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.