Scarf syndrome

Preferred Label : Scarf syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities;

Description : Koppe et al. (1989) described 2 male maternal first cousins with an apparently 'new' syndrome including lax skin, joint hyperextensibility, umbilical and inguinal hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. Some of the features suggest those of the Lenz-Majewski hyperostotic dwarfism syndrome (151050). *FIELD* RF 1. Koppe, R.; Kaplan, P.; Hunter, A.; MacMurray, B.: Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). Am. J. Med. Genet. 34: 305-312, 1989. *FIELD* CS X-linked recessive;

Inheritance : X-linked recessive;

Prefixed ID : 312830;

Details

Origin ID

312830;

UMLS CUI

C1839321;

Currated CISMeF NLP mapping
- SCARF syndrome [ICD-11 More detail]
- SCARF syndrome [MeSH concept]
- SCARF syndrome [MeSH Supplementary Concept]
- SCARF syndrome [ORDO Disease]
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormal form of the vertebral bodies [HPO term]
- Barrel-shaped chest [HPO term]
- Bifid scrotum [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Diastasis recti [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Hypoplastic nipples [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Pectus carinatum [HPO term]
- Perineal hypospadias [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Short chin [HPO term]
- Short neck [HPO term]
- Short sternum [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Thickened nuchal skin fold [HPO term]
- Umbilical hernia [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
- high, broad nasal root [HPO term]
ORDO concept(s)
- SCARF syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCARF syndrome [ORDO Disease]
- SCARF syndrome [MeSH Supplementary Concept]
- SCARF syndrome [MeSH concept]
- SCARF syndrome [ICD-11 More detail]
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) [SNOMED CT concept]

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