Spondylometaphyseal dysplasia, algerian type

Preferred Label : Spondylometaphyseal dysplasia, algerian type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spondylometaphyseal dysplasia, schmidt type; Spondylometaphyseal dysplasia with severe genu valgum;

Description : Kozlowski et al. (1988) reported an Algerian family in which 5 members had a seemingly 'new' form of spondylometaphyseal dysplasia. It was considered possible that the patient reported by Schmidt et al. (1963) had this disorder. None of the spondylometaphyseal dysplasias show a combination of such severe metaphyseal changes and severe genu valgum. Among the metaphyseal dysplasias, only the Jansen type (156400) shows severe metaphyseal changes, but in that disorder genu varus deformity is found and sclerosis of the skull is a common finding in older patients (Holthusen et al., 1975). *FIELD* SA Rybak et al. (1991) *FIELD* RF 1. Holthusen, W.; Holt, J. F.; Stoeckenius, M.: The skull in metaphyseal chondrodysplasia type Jansen. Pediat. Radiol. 3: 137-144, 1975. 2. Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.: A new type of spondylo-metaphyseal dysplasia--Algerian type: report of five cases. Pediat. Radiol. 18: 221-226, 1988. 3. Rybak, M.; Foley, T. P.; Kozlowski, K.: Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. Am. J. Med. Genet. 40: 304-306, 1991. 4. Schmidt, B. J.; Becak, W.; Becak, M. L.; Soibelman, I.; da Silva Queiroz, A.; Lorga, A. P.; Secaf, F.; Antonio, C. F.; Carvalho, A. A.: Metaphyseal dysostosis: review of literature; study of a case with cytogenetic analysis. J. Pediat. 63: 106-112, 1963. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 184253;

Details

Origin ID

184253;

UMLS CUI

C1866688;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Algerian type [MeSH concept]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]
HPO term(s)
- Anterior rib cupping [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bowed humerus [HPO term]
- Carpal bone hypoplasia [HPO term]
- Coxa vara [HPO term]
- Dwarfism [HPO term]
- Flared femoral metaphysis [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of proximal radius [HPO term]
- Hypoplastic pelvis [HPO term]
- Kyphoscoliosis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Metaphyseal dysplasia [HPO term]
- Myopia [HPO term]
- Platyspondyly [HPO term]
- Proximal radial shortening [HPO term]
- Severe metaphyseal changes of long bones [HPO term]
- Severe short stature [HPO term]
- Short greater sciatic notch [HPO term]
- Short long bone [HPO term]
- Short tubular bones of the hand [HPO term]
- Small pelvis [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Tibial metaphyseal irregularity [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Algerian type [MeSH concept]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- spondylometaphyseal dysplasia Algerian type [DO Concept]
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]

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