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Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microcephaly-short stature-intellectual disability-facial dysmorphism syndrome.
2 publications have been identified in PubMed for microcephaly-short stature-intellectual disability-facial dysmorphism syndrome. Research spans Case Report / Case Series (100%).
Pan J (2025). [PMID: 39932334](https://pubmed.ncbi.nlm.nih.gov/39932334/). *Applied neuropsychology. Child*. [Case Report / Case Series]
Nerakh G (2025). [PMID: 40657982](https://pubmed.ncbi.nlm.nih.gov/40657982/). *Clinical dysmorphology*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:14 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center