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Condition report · Musculoskeletal

Meier-Gorlin Syndrome 4

A rare growth condition causing short stature from before birth, small ears and small or absent kneecaps, usually with normal intelligence. It is caused by changes in both copies of the CDT1 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of CDT1, a gene needed to start DNA copying before cell division, which limits growth.

Signs and symptoms

Short stature beginning before birth, small ears (microtia) and small or absent kneecaps (patellae) are the classic features. Intelligence is usually normal. Less often there are feeding and breathing difficulties in infancy, including lung emphysema; some females have small breasts, and some males have undescended testes or other genital differences.

What a diagnosis changes

Growth, hearing and orthopaedic review, with feeding and respiratory support in infancy where needed. Carrier testing of relatives and genetic counselling are available.

Genes analysed

Also known as

CDT1 Meier-Gorlin syndrome; Meier-Gorlin syndrome caused by mutation in CDT1; Meier-Gorlin syndrome type 4; MGORS4

MONDO:0013431OMIM 613804MedGen 462470Sources: [1][2][3]

References

  1. Meier-Gorlin syndrome. MedlinePlus Genetics
  2. de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG et al., 2016. Meier-Gorlin syndrome. Orphanet journal of rare diseases
  3. Li Q, Wu Y, Meng F, Li Z, Zhan D, Luo X, 2025. A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments. Orphanet journal of rare diseases

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