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A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Features include always present findings: Thick vermilion border, Single transverse palmar crease, Global developmental delay, and Triangular face and others; and very common findings: Short stature, Intellectual disability, Microcephaly, and Underdeveloped supraorbital ridges and others. 100 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 7 | Submucous cleft hard palate, Microcephaly, Triangular face |
Phenotype severity distribution: 7 always present features, 10 very common features, 35 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Dubowitz syndrome.
1 publication has been identified in PubMed for Dubowitz syndrome. Research spans Case Report / Case Series (100%).
Fukumoto Inukai KA (2025). [PMID: 39897299](https://pubmed.ncbi.nlm.nih.gov/39897299/). *Cureus*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Dubowitz syndrome
Brain and nerves | 5 | Intellectual disability, Global developmental delay, Delayed speech and language development |
Eyes | 4 | Strabismus, Ptosis, Cataract |
Growth and development | 4 | Short stature, Postnatal growth retardation, Intrauterine growth retardation |
Digestive system | 4 | Gastroesophageal reflux, Chronic diarrhea, Feeding difficulties in infancy |
Arms and legs | 3 | Clinodactyly of the 5th finger, Short foot, Small hand |
Blood and immune system | 3 | Lymphoma, Recurrent infections, Aplastic anemia |
Ears | 3 | Otitis media, Recurrent otitis media, Hearing loss (hearing impairment) |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Bones and joints | 1 | Delayed skeletal maturation |
Skin | 1 | Eczematoid dermatitis |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |