Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay

Preferred Label : Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Stoll et al. (1994) reported 3 sibs (2 females and 1 male), born of first-cousin parents, with a similar complex of abnormalities: delay in physical and psychomotor development, facial dysmorphism (prominent forehead, midface hypoplasia, short philtrum), relapsing respiratory, gastrointestinal and urinary infections, steatorrhea, and neutropenia. Bronchiectasis was found in all 3 patients. A sweat test was normal. Immunologic study of the older sister showed a low number of E rosettes, which was not corrected by thymosin. The 2 older sibs exhibited cardiovascular malformations (aortic insufficiency in the girl, auricular septal defect and tricuspid insufficiency in the boy). Both sisters had vesicoureteral reflux. Acute myeloblastic leukemia was diagnosed in the older girl at the age of 14 years. Cytogenetic study of the patients was normal. Normal output of pancreatic enzymes and the absence of bone abnormalities ruled out the diagnosis of Shwachman syndrome (260400), and stability of centromeres and no increase in micronuclei in PHA-stimulated cultures ruled out the ICF syndrome (242860). Stoll et al. (1994) concluded that the associations found in the 3 sibs represented a distinct syndrome with autosomal recessive inheritance. *FIELD* RF 1. Stoll, C.; Alembik, Y.; Lutz, P.: A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genet. Counsel. 5: 161-165, 1994. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Neoplasia : Myelodysplasia; Acute myeloblastic leukemia;

Laboratory abnormalities : Normal sweat test; Normal constitutional karyotype; Abnormal bone marrow karyotype, t(8,21);

Prefixed ID : 601347;

Details

Origin ID

601347;

UMLS CUI

C1832442;

Currated CISMeF NLP mapping
- myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay [MeSH Supplementary Concept]
- myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay [MeSH concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Acute myeloid leukemia [HPO term]
- Anemia [HPO term]
- Aortic regurgitation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid ureter [HPO term]
- Bronchiectasis [HPO term]
- Decreased body weight [HPO term]
- Decreased testicular size [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Global developmental delay [HPO term]
- Height less than 3rd percentile [HPO term]
- Immunodeficiency [HPO term]
- Increased number of skin folds [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Myelodysplasia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Neutropenia [HPO term]
- Prominent forehead [HPO term]
- Recurrent infections [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Steatorrhea [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin skin [HPO term]
- Tricuspid regurgitation [HPO term]
- Ureteral duplication [HPO term]
- Vesicoureteral reflux [HPO term]
Not associated HPO term(s)
- Abnormal sweat electrolytes [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay [MeSH Supplementary Concept]
- myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay [MeSH concept]

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