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Cataract-intellectual disability-hypogonadism syndrome

Disease definition

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

ORPHA:1387

Classification level: Disorder
  • Synonym(s):
    • Martsolf syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 212720  619420
  • UMLS: C0796037
  • MeSH: -
  • GARD: 3406
  • MedDRA: -

Summary

Epidemiology

Less than 20 cases have been described in the literature so far.

Clinical description

Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).

Etiology

Mutations in the RAB3GAP2 gene have been identified in some patients.

Genetic counseling

Transmission is autosomal recessive.

- Last update: May 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Detailed information

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

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.