Mietens-weber syndrome

Preferred Label : Mietens-weber syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Mental retardation syndrome, mietens-weber type;

Description : Mietens and Weber (1966) reported a family in which 4 of 6 offspring of unaffected, second-cousin parents had a syndrome consisting of mental retardation, corneal opacity, nystagmus, strabismus, small pinched nose, flexion contracture of the elbows, dislocation of head of radius, abnormally short ulna and radius, and clinodactyly. Martinez-Glez et al. (2006) described 9-year-old female twins with Mietens-Weber syndrome. The patients were born after a normal pregnancy to young and nonconsanguineous parents. Findings noted soon after birth included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. Martinez-Glez et al. (2006) reviewed the literature and concluded that only 9 cases, including their 2, had been reported. The inheritance pattern appeared to be autosomal recessive. Martinez-Glez et al. (2006) stated that the finding of congenital nystagmus and radii dislocation in a patient with mental retardation is highly suggestive of the disorder. *FIELD* RF 1. Martinez-Glez, V.; Lapunzina, P.; Delicado, A.; Tendero, A.; Mori, M. A.; de Torres, M. L.; Fernandez, L.; Palomares, M.; Pajares, I. L.: Mietens-Weber syndrome: two new patients and a review. Clin. Dysmorph. 15: 175-177, 2006. 2. Mietens, C.; Weber, H.: A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation. J. Pediat. 69: 624-629, 1966. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 249600;

Details

Origin ID

249600;

UMLS CUI

C0265249;

Automatic exact mappings (from CISMeF team)
- Mental retardation Mietens Weber type [MeSH concept]
- Mietens syndrome [ICD-11 More detail]
- Mietens syndrome [ORDO Disease]
- Mietens syndrome (disorder) [SNOMED CT concept]
- mental retardation mietens weber type [MeSH Supplementary Concept]
- mietens syndrome [SNOMED Notion]
HPO term(s)
- Absent proximal radial epiphyses [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dislocated radial head [HPO term]
- Elbow flexion contracture [HPO term]
- Forearm undergrowth [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Narrow nose [HPO term]
- Nystagmus [HPO term]
- Pes planus [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Mietens syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental retardation Mietens Weber type [MeSH concept]
- Mietens syndrome [ORDO Disease]
- Mietens syndrome (disorder) [SNOMED CT concept]
- mental retardation mietens weber type [MeSH Supplementary Concept]
- mietens syndrome [SNOMED Notion]

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