Trigonocephaly with short stature and developmental delay

Preferred Label : Trigonocephaly with short stature and developmental delay;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : SAMES; Say-meyer syndrome;

Description : Say and Meyer (1981) observed trigonocephaly in 3 males in 3 maternally related sibships, consistent with X-linked recessive inheritance. Autosomal dominant inheritance with low expressivity in women could not be excluded. The oldest of the 3, aged 30, was 162 cm tall and was moderately mentally retarded. The other 2, nephews of this man, had a closed posterior fontanel, very small anterior fontanel, and a marked frontal vertical ridge; narrow forehead; hypotelorism and marked retardation in weight, height, head circumference, and psychomotor development. Normally the major sutures of the cranial vault close between 28 and 32 years of age; the metopic suture closes much earlier, usually during the second or third year of life. Say and Meyer (1981) found no similar reported case and specifically distinguished the disorder from the trigonocephaly with minor anomalies reported in mother and son by Hunter et al. (1976) and from the Opitz trigonocephaly syndrome (211750). *FIELD* RF 1. Hunter, A. G. W.; Rudd, N. L.; Hoffmann, H. J.: Trigonocephaly and associated minor anomalies in mother and son. J. Med. Genet. 13: 77-79, 1976. 2. Say, B.; Meyer, J.: Familial trigonocephaly associated with short stature and developmental delay. Am. J. Dis. Child. 135: 711-712, 1981. *FIELD* CS X-linked recessive;

Inheritance : X-linked recessive;

Prefixed ID : 314320;

Details

Origin ID

314320;

UMLS CUI

C1839125;

Automatic exact mappings (from CISMeF team)
- S-Adenosylmethionine [MeSH Descriptor]
- S-Adenosylmethionine Measurement [NCIt concept]
- SAME AS (attribute) [SNOMED CT concept]
- Same [NCIt concept]
- Same (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Say Meyer syndrome [MeSH concept]
- Trigonocephaly, short stature, developmental delay syndrome (disorder) [SNOMED CT concept]
- Trigonocephaly-short stature-developmental delay syndrome [ORDO Disease]
- say meyer syndrome [MeSH Supplementary Concept]
HPO term(s)
- Broad alveolar ridges [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Convex nasal ridge [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypotelorism [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Low-set ears [HPO term]
- Narrow forehead [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature posterior fontanelle closure [HPO term]
- Sagittal craniosynostosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small anterior fontanelle [HPO term]
- Small for gestational age [HPO term]
- Trigonocephaly [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Trigonocephaly-short stature-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Say Meyer syndrome [MeSH concept]
- Trigonocephaly, short stature, developmental delay syndrome (disorder) [SNOMED CT concept]
- Trigonocephaly-short stature-developmental delay syndrome [ORDO Disease]
- say meyer syndrome [MeSH Supplementary Concept]

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