Macdermot-winter syndrome

Preferred Label : Macdermot-winter syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : MacDermot and Winter (1989) described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development. The 2 brothers were from a consanguineous Moslem family. They showed prenatal onset of growth deficiency and had convulsions from birth. Atypical anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and wide-spaced nipples. Death occurred at 21 days and 7 months, respectively. Postmortem examination showed dilated cerebral ventricles and hydronephrosis. *FIELD* RF 1. MacDermot, K. D.; Winter, R. M.: Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development. Am. J. Med. Genet. 32: 60-62, 1989. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 247990;

Details

Origin ID

247990;

UMLS CUI

C0796024;

Currated CISMeF NLP mapping
- MacDermot Winter syndrome [MeSH concept]
- MacDermot winter syndrome [MeSH Supplementary Concept]
- Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) [SNOMED CT concept]
- Prominent glabella-microcephaly-hypogenitalism syndrome [ORDO Disease]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Death in infancy [HPO term]
- Frontal upsweep of hair [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hydronephrosis [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Intrauterine growth retardation [HPO term]
- Low anterior hairline [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Partial camptodactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent glabella [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Prominent glabella-microcephaly-hypogenitalism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MacDermot Winter syndrome [MeSH concept]
- MacDermot winter syndrome [MeSH Supplementary Concept]
- Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) [SNOMED CT concept]
- Prominent glabella-microcephaly-hypogenitalism syndrome [ORDO Disease]

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