Mcdonough syndrome

Preferred Label : Mcdonough syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Neuhauser and Opitz (1975) described a family with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect. They called it McDonough syndrome. Three of 5 sibs were affected, leading to a suggestion of autosomal recessive inheritance. The authors considered it coincidental that the youngest affected sib had a chromosomal complement 47,XXY and the father was a mosaic 46,XY/47,XXY. Garcia-Sagredo et al. (1984) reported a second family in which 2 of 3 sibs (a girl and a boy) were affected. It was considered coincidental that the affected boy and the unaffected mother had a balanced X;20 translocation. The father had ptosis, which was also considered coincidental. *FIELD* RF 1. Garcia-Sagredo, J. M.; Lozano, C.; Ferrando, P.; San Roman, C. : Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X;20) translocation. Clin. Genet. 26: 117-124, 1984. 2. Neuhauser, G.; Opitz, J. M.: Studies of malformation syndromes in man. XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father). Z. Kinderheilk. 120: 231-242, 1975. *FIELD* CS Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 248950;

Details

Origin ID

248950;

UMLS CUI

C0796038;

Currated CISMeF NLP mapping
- McDonough syndrome [ICD-11 More detail]
- McDonough syndrome [MeSH concept]
- McDonough syndrome [MeSH Supplementary Concept]
- McDonough syndrome [ORDO Disease]
- McDonough syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Diastasis recti [HPO term]
- Furrowed tongue [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic toenails [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Large nose [HPO term]
- Mandibular prognathia [HPO term]
- Micrognathia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Radial deviation of finger [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- McDonough syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- McDonough syndrome [ORDO Disease]
- McDonough syndrome [MeSH Supplementary Concept]
- McDonough syndrome [MeSH concept]
- McDonough syndrome (disorder) [SNOMED CT concept]

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