Kaufman oculocerebrofacial syndrome

Preferred Label : Kaufman oculocerebrofacial syndrome;

Symbol : KOS;

CISMeF acronym : BPIDS; KOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Blepharophimosis-ptosis-intellectual disability syndrome; BPIDS;

Description : Kaufman et al. (1971) described a distinctive syndrome in 4 of 7 sibs. Significant positive and negative features included intrauterine and postnatal growth retardation, microcephaly with mental retardation but no gross neurologic abnormalities or seizures, hypertelorism with epicanthi, ptosis of the eyelids, mongoloid obliquity of the palpebral fissures, microcornea with pale optic discs, sparse and laterally broad eyebrows, flat philtrum, congenital hypotonia, micrognathia with neonatal respiratory distress, high and narrow palate, lordosis, constipation and flat feet. Jurenka and Evans (1979) reported a sporadic case. Garcia-Cruz et al. (1988) and Briscioli et al. (1991) described cases. Figuera et al. (1993) reported the disorder in 2 unrelated Mexican girls, aged 14 months and 6 years. Both showed psychomotor retardation, microcephaly, blepharophimosis, and delayed growth as the main features. The infant also showed preauricular tags and large clitoris. Briscioli et al. (1995) concluded that only 8 cases had been reported to that time. They described an affected girl with severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet in whom the diagnosis of Kaufman oculocerebrofacial syndrome had been made at the age of 15 years. Difficulties in making the diagnosis in childhood were commented on. *FIELD* RF 1. Briscioli, V.; Manoukian, S.; Selicorni, A.; Livini, E.; Lalatta, F.: Kaufman oculocerebrofacial syndrome in a girl of 15 years. Am. J. Med. Genet. 58: 21-23, 1995. 2. Briscioli, V.; Selicorni, A.; Livini, E.; Piguzzi, M. T.; Lalatta, F.: Kaufman oculocerebrofacial syndrome in a 15 year old girl. Am. J. Hum. Genet. 49 (suppl.): 146 only, 1991. 3. Figuera, L. E.; Garcia-Cruz, D.; Ramirez-Duenas, M. L.; Rivera-Robles, V.; Cantu, J. M.: Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. Clin. Genet. 44: 98-101, 1993. 4. Garcia-Cruz, D.; Arreola, R.; Sanchez-Corona, J.; Garcia-Cruz, O.; Renteria, R.; Villar, V.; Gonzalez, M. E.; Vargas-Moyeda, E.; Cantu, J. M.: Kaufman oculocerebrofacial syndrome: a corroborative report. Dysmorph. Clin. Genet. 1: 152-154, 1988. 5. Jurenka, S. B.; Evans, J.: Kaufman oculocerebrofacial syndrome: case report. Am. J. Med. Genet. 3: 15-19, 1979. 6. Kaufman, R.; Rimoin, D. L.; Prensky, A. L.; Sly, W. S.: An oculocerebrofacial syndrome. Birth Defects Orig. Art. Ser. 7(1): 135-138, 1971. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin-protein ligase E3B gene (UBE3B, 608047.0001);

Laboratory abnormalities : Elevated TSH; Anomalies of cholesterol levels; Low growth hormone levels; Low ACTH level;

Prefixed ID : #244450;

Details

Origin ID

244450;

UMLS CUI

C1855663;

Automatic exact mappings (from CISMeF team)
- Cos (geographic location) [SNOMED CT concept]
- Kagami-Ogata syndrome [ORDO Disease]
- Kagami-Ogata syndrome [DO Concept]
- Kaufman oculocerebrofacial syndrome [DO Concept]
- Kosraean Language [NCIt concept]
- Oculocerebrofacial syndrome Kaufman type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Kaufman oculocerebrofacial syndrome [MeSH concept]
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
- kaufman oculocerebrofacial syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kaufman oculocerebrofacial syndrome [DO Concept]
Genes related to phenotype
- Ubiquitin-protein ligase e3b [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Carious teeth [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Coarctation of aorta [HPO term]
- Congenital hip dislocation [HPO term]
- Constipation [HPO term]
- Depressed nasal bridge [HPO term]
- Diastema [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypocholesterolemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Intestinal malrotation [HPO term]
- Laryngeal stridor [HPO term]
- Laryngomalacia [HPO term]
- Long face [HPO term]
- Long palm [HPO term]
- Long, thin hands [HPO term]
- Low-set ears [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow face [HPO term]
- Narrow mouth [HPO term]
- Narrow palm [HPO term]
- Neonatal respiratory distress [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Ovoid vertebral bodies [HPO term]
- Preauricular skin tag [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Smooth philtrum [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Thin skin [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kaufman oculocerebrofacial syndrome [MeSH concept]
- Kaufman oculocerebrofacial syndrome [DO Concept]
- Oculocerebrofacial syndrome Kaufman type (disorder) [SNOMED CT concept]
- Oculocerebrofacial syndrome, Kaufman type [ORDO Disease]
- kaufman oculocerebrofacial syndrome [MeSH Supplementary Concept]

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