Blepharophimosis with facial and genital anomalies and impaired intellectual development

Preferred Label : Blepharophimosis with facial and genital anomalies and impaired intellectual development;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Blepharophimosis-mental retardation syndrome, verloes type; Blepharophimosis with facial and genital anomalies and mental retardation;

Description : Nowaczyk and Sutcliffe (1999) described 2 sibs, a 2.5-year-old girl and a 10-month-old boy, with an apparently novel combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. They proposed autosomal recessive inheritance. The parents were not related. The father was from El Salvador and the mother was of English and Irish descent. There were no recognized teratogenic exposures during the pregnancies. The girl had underdeveloped labia majora, and the labia minora were easily visible. The boy had grade 1 hypospadias with a cleft prepuce, shawl scrotum, and fine lanugo hair over the scrotum. *FIELD* RF 1. Nowaczyk, M. J. M.; Sutcliffe, T. L.: Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. Am. J. Med. Genet. 87: 78-81, 1999. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : %604314;

Details

Origin ID

604314;

UMLS CUI

C1858538;

Automatic exact mappings (from CISMeF team)
- Blepharophimosis-intellectual disability syndrome, Verloes type [ORDO Disease]
Currated CISMeF NLP mapping
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH concept]
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Adducted thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Deep palmar crease [HPO term]
- Depressed nasal tip [HPO term]
- Dystrophic toenail [HPO term]
- Facial capillary hemangioma [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Glandular hypospadias [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Laryngomalacia [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Long, flat philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Narrow mouth [HPO term]
- Narrow palate [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent antihelix [HPO term]
- Prominent occiput [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Recurrent otitis media [HPO term]
- Redundant neck skin [HPO term]
- Retrognathia [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shawl scrotum [HPO term]
- Small for gestational age [HPO term]
- Smooth philtrum [HPO term]
- Supernumerary nipple [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Thickened helices [HPO term]
- Thickened nuchal skin fold [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Blepharophimosis-intellectual disability syndrome, Verloes type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis-intellectual disability syndrome, Verloes type [ORDO Disease]
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH Supplementary Concept]
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH concept]

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