Orphanet: Spondyloepiphyseal dysplasia craniosynostosis cleft palate cataracts intellectual disability syndrome

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Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Disease definition

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.

ORPHA:163649

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q77.7
OMIM: 602611 618618
UMLS: C1865134
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

The syndrome has been described in four Japanese sibs (three brothers and one sister born to nonconsanguineous parents).

Clinical description

Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood.

Genetic counseling

Autosomal recessive inheritance has been suggested.

- Last update: September 2009

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Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

ORPHA:163649

Summary

Epidemiology

Clinical description

Genetic counseling

A summary on this disease is available in Español (2009) Nederlands (2009)

Further information on this disease

Patient-centred resources for this disease

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