Craniosynostosis with anomalies of the cranial base and digits

Preferred Label : Craniosynostosis with anomalies of the cranial base and digits;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Woon et al. (1980) described presumably monozygotic male twins who died at ages 2 and 3 months and who showed identical changes in skull and limbs: premature craniosynostosis, synchondrosis of the bones at the base of the skull, absent thumbs, absence of the middle phalanges of fingers 2 and 5, and proximally placed halluces. The mother was Mexican American and the father Sioux Indian without known consanguinity. Chromosomes were normal. *FIELD* RF 1. Woon, K.-C.; Kokich, V. G.; Clarren, S. K.; Cohen, M. M., Jr.: Craniosynostosis with associated cranial base anomalies: a morphologic and histologic study of affected like-sexed twins. Teratology 22: 23-35, 1980. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 218530;

Details

Origin ID

218530;

UMLS CUI

C1857493;

Currated CISMeF NLP mapping
- craniosynostosis with anomalies of the cranial base and digits [MeSH concept]
- craniosynostosis with anomalies of the cranial base and digits [MeSH Supplementary Concept]
HPO term(s)
- Absent middle phalanges of fingers 2 and 5 [HPO term]
- Absent middle phalanx of 2nd finger [HPO term]
- Absent middle phalanx of 5th finger [HPO term]
- Absent thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Craniosynostosis [HPO term]
- Preaxial foot polydactyly [HPO term]
- Premature craniosynostosis [HPO term]
- Proximal placement of hallux [HPO term]
- Proximal placement of thumb [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniosynostosis with anomalies of the cranial base and digits [MeSH Supplementary Concept]
- craniosynostosis with anomalies of the cranial base and digits [MeSH concept]

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