Preferred Label : Abruzzo-erickson syndrome;
Symbol : ABERS;
CISMeF acronym : ABERS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Charge-like syndrome, X-linked;
Description : Abruzzo and Erickson (1977) reported an apparently 'new' syndrome of cleft palate,
coloboma, hypospadias, deafness, short stature, and radial synostosis expressed variably
in 2 brothers, their mother, and a maternal uncle. Davenport et al. (1986) and Metlay
et al. (1987) cited this family as a familial instance of CHARGE syndrome (214800).
Abruzzo and Erickson (1989) provided follow-up on the 2 brothers of the family who
were children at the time of the first report. Like their mother and maternal uncle,
neither had choanal atresia. Both had coronal hypospadias but genital development
was otherwise normal. The ears were large and protruding, and hearing impairment required
a hearing aid. Wide spacing between the second and third fingers as well as unilateral
or bilateral radioulnar synostosis was noted in several members of the family. Mental
retardation was not present. The manifestations in the mother, who according to the
proposed inheritance as an X-linked disorder would be heterozygous, consisted of large
ears and flat malar configuration like her sons and brother and wide spacing between
the second and third digits as well as unusual rugosity of the palate. The brothers
were below the fifth percentile for height at age 19 and 16, respectively. *FIELD*
RF 1. Abruzzo, M. A.; Erickson, R. P.: A new syndrome of cleft palate associated with
coloboma, hypospadias, deafness, short stature, and radial synostosis. J. Med. Genet.
14: 76-80, 1977. 2. Abruzzo, M. A.; Erickson, R. P.: Re-evaluation of new X-linked
syndrome for evidence of CHARGE syndrome or association. Am. J. Med. Genet. 34: 397-400,
1989. 3. Davenport, S. L. H.; Hefner, M. A.; Thelin, J. W.: CHARGE syndrome.: Part
I. external ear anomalies. Int. J. Pediat. Otorhinolaryng. 12: 137-143, 1986. Note:
Erratum: Int. J. Pediat. Otorhinolaryng. 12: 348 only, 1987. 4. Metlay, L. A.; Smythe,
P. S.; Miller, M. E.: Familial CHARGE syndrome: clinical report with autopsy findings.
Am. J. Med. Genet. 26: 577-581, 1987. *FIELD* CS;
Inheritance : X-linked;
Prefixed ID : #302905;
Origin ID : 302905;
UMLS CUI : C1844862;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
