Emanuel syndrome

Preferred Label : Emanuel syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 22) SYNDROME; Supernumerary der(22)t(11;

Description : Emanuel syndrome is characterized by multiple congenital anomalies, craniofacial dysmorphism, and significant developmental delay and mental retardation. Features include ear anomalies, preauricular tag or sinus, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities, heart defects, and genital abnormalities in males (summary by Carter et al., 2009). Carriers of the balanced constitutional t(11;22) translocation are phenotypically normal but have a 10% risk of having progeny with supernumerary der(22)t(11;22) syndrome as a result of malsegregation of the der(22). The affected progeny are genotypically unbalanced because they carry the der(22) as a supernumerary chromosome--either 47,XX, der(22)t(11;22) or 47,XY, der(22)t(11;22) (Zackai and Emanuel, 1980; Lin et al., 1986).;

Inheritance : Inherited chromosomal imbalance;

Molecular basis : Caused by non-Robertsonian constitutional translocation, (11 22)(q23 q11.2);

Laboratory abnormalities : Patients have supernumerary chromosome - 47,XX(or XY), der(22), (11:22)(q23:q11); Carriers have balanced constitutional translocation - 46,XX(or XY), (11:22)(q23:q11);

Prefixed ID : #609029;

Details

Origin ID

609029;

UMLS CUI

C1836929;

Automatic exact mappings (from CISMeF team)
- Emanuel syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Emanuel syndrome [MeSH concept]
- Emanuel syndrome [ORDO Disease]
- Supernumerary der(22)t(11;22) syndrome [ICD-11 More detail]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- emanuel syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Anal atresia [HPO term]
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Broad jaw [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital hip dislocation [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Low-set nipples [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Patent ductus arteriosus [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Prenatal growth deficiency [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Single umbilical artery [HPO term]
- Strabismus [HPO term]
- Thickened nuchal skin fold [HPO term]
- Truncus arteriosus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Emanuel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emanuel syndrome [ORDO Disease]
- Emanuel syndrome [MeSH concept]
- Emanuel syndrome [MedDRA Preferred Term]
- Supernumerary der(22)t(11;22) syndrome [ICD-11 More detail]
- Supernumerary der(22)t(11;22) syndrome (disorder) [SNOMED CT concept]
- emanuel syndrome [MeSH Supplementary Concept]

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