Growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

Preferred Label : Growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy;

Description : Shotelersuk et al. (2003) described a Thai sister and brother, born of healthy, unrelated parents, with a combination of features interpreted as representing a novel autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Both sibs had postnatal-onset growth deficiency, microcephaly with cortical dysplasia and cerebellar atrophy, bilateral lenticular cataracts, prominent supraorbital ridges, large joint contractures, severe osteoporosis, and mental retardation. The brother also had infrequent tonic-clonic seizures beginning at age 5 years, an arachnoid cyst in the right temporal area, bilateral ankle clonus, and upgoing plantar reflexes. Two other sibs were healthy. Shotelersuk et al. (2003) compared and contrasted the syndrome in these 2 sibs with other syndromes characterized by microcephaly, mental retardation, growth failure, and childhood cataracts. *FIELD* RF 1. Shotelersuk, V.; Desudchit, T.; Suwanwela, N.: Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. Am. J. Med. Genet. 116A: 164-169, 2003. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 608278;

Details

Origin ID

608278;

UMLS CUI

C1842321;

Automatic exact mappings (from CISMeF team)
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH concept]
CISMeF manual mappings
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Contractures of the large joints [HPO term]
- Cortical dysplasia [HPO term]
- Developmental cataract [HPO term]
- Growth failure [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Osteoporosis [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent supraorbital ridges [HPO term]
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH Supplementary Concept]
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH concept]

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