velocardiofacial syndrome

(redirected from chromosome 22q11.2 deletion syndrome)

velocardiofacial syndrome

[MIM*192430]
a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance.
Synonym(s): Shprintzen syndrome

velocardiofacial syndrome

[MIM*192430]
a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance.
Synonym(s): Shprintzen syndrome
Farlex Partner Medical Dictionary © Farlex 2012

velocardiofacial syndrome

A usually autosomal dominant condition (OMIM:192430) characterised by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus and conotruncal region of the heart.

Molecular pathology
Haploinsufficiency and point mutations of TBX1, a T-box gene that encodes a transcription factor involved in regulating embryonic development, especially of the pharyngeal arch arteries.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

velocardiofacial syndrome

Shprintzen syndrome Clinical genetics An AD  condition characterized by cleft palate, cardiac defects, typical facies–prominent tubular nose, narrow palpebral fissures, slightly retrocessed mandible, learning disabilities, as well as microcephaly, mental and growth retardation, short stature, speech and feeding defects, minor ear anomalies, slender hands and digits, inguinal hernia. See FISH.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

vel·o·car·di·o·fa·cial syn·drome

(vēlō-kahrdē-ō-fāshăl sindrōm)
Disorder with hypernasal speech, dysmorphic facial features, and cardiac abnormalities.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Shprintzen,

Robert J., 20th century U.S. geneticist.
Shprintzen syndrome - Synonym(s): velocardiofacial syndrome
Medical Eponyms © Farlex 2012

vel·o·car·di·o·fa·cial syn·drome

(vēlō-kahrdē-ō-fāshăl sindrōm) [MIM*192430]
Disorder with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).
Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review.
Identifying patterns of anxiety and depression in children with chromosome 22q11.2 deletion syndrome: comorbidity predicts behavioural difficulties and impaired functional communications.
Sullivan, "T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome," Blood, vol.
of California-Davis discuss the onset and developmental course, signs and symptoms, epidemiology and etiology, biological mechanisms, animal models, diagnosis and differential diagnosis, evidence-based interventions, supports and resources, outcomes, and ongoing research related to autism spectrum disorders; attention-deficit/hyperactivity disorder; fragile X syndrome; chromosome 22q11.2 deletion syndrome; Tourette syndrome, tic disorders, and comorbidities; Down syndrome, Angelman and Prader-Willi syndrome; Williams syndrome; sex chromosome aneuploidy; learning disorders; and speech and language disorders.

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