Lymphedema-hypoparathyroidism syndrome

Preferred Label : Lymphedema-hypoparathyroidism syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hypoparathyroidism-lymphedema syndrome;

Description : Dahlberg et al. (1983) described 2 adult brothers with congenital lymphedema, hypoparathyroidism, nephropathy, mitral valve prolapse and brachytelephalangy. The older sib was found to have bilateral cataracts on routine examination at age 19 years. Swelling of his arms and legs, noted soon after his birth, increased after he began walking. Progressive renal failure necessitated renal transplantation at age 26 years. The brother had similar findings. Both have a broad nasal bridge and lateral displacement of the inner canthi. Pulmonary lymphangiectasia (see 265300) was suspected on the basis of radiologic findings. The mode of inheritance is not clear but includes autosomal recessive and X-linked recessive inheritance. *FIELD* RF 1. Dahlberg, P. J.; Borer, W. Z.; Newcomer, K. L.; Yutuc, W. R.: Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am. J. Med. Genet. 16: 99-104, 1983. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 247410;

Details

Origin ID

247410;

UMLS CUI

C1855477;

Currated CISMeF NLP mapping
- Dahlberg Borer Newcomer syndrome [MeSH concept]
- Dahlberg-Borer-Newcomer syndrome [ICD-11 More detail]
- Dahlberg-Borer-Newcomer syndrome [ORDO Disease]
- Lymphedema hypoparathyroidism syndrome (disorder) [SNOMED CT concept]
- dahlberg borer newcomer syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cataract [HPO term]
- Hypertrichosis [HPO term]
- Hypoparathyroidism [HPO term]
- Increased carrying angle [HPO term]
- Lymphedema [HPO term]
- Mitral valve prolapse [HPO term]
- Nephropathy [HPO term]
- Ptosis [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Renal insufficiency [HPO term]
- Restrictive ventilatory defect [HPO term]
- Short stature [HPO term]
- Telecanthus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Dahlberg-Borer-Newcomer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dahlberg Borer Newcomer syndrome [MeSH concept]
- Dahlberg-Borer-Newcomer syndrome [ORDO Disease]
- Dahlberg-Borer-Newcomer syndrome [ICD-11 More detail]
- Lymphedema hypoparathyroidism syndrome (disorder) [SNOMED CT concept]
- dahlberg borer newcomer syndrome [MeSH Supplementary Concept]

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