velocardiofacial syndrome


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Related to velocardiofacial syndrome: DiGeorge 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

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.

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.

vel·o·car·di·o·fa·cial syn·drome

(vēlō-kahrdē-ō-fāshăl sindrōm)
Disorder with hypernasal speech, dysmorphic facial features, and cardiac abnormalities.

Shprintzen,

Robert J., 20th century U.S. geneticist.
Shprintzen syndrome - Synonym(s): velocardiofacial syndrome

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.
References in periodicals archive ?
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Otolaryngologic problems associated with velocardiofacial syndrome include speech and language deficiencies.
Of note is that the psychiatric conditions associated with velocardiofacial syndrome change with age.
Down's syndrome and velocardiofacial syndrome are the most commonly seen syndromes in patients with CHD.
(1,5) Associated genetic etiologies include CHARGE association, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome, and velocardiofacial syndrome. (1,6)
One example of such a genetic condition is 22q11.2 deletion syndrome, a disorder responsible for multiple conditions, including DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly-face syndrome.
Among the many features with which velocardiofacial syndrome (VCFS) may present, we review in this paper the literature on working memory deficits, dysmorphic features, co-morbid obsessive-compulsive disorder, early deviant behaviour, functional impairment, and early age of onset of schizophrenia.
(40) In 84 patients with velocardiofacial syndrome (VCF), ADHD affected 43% of individuals.
One of these is velocardiofacial syndrome (VCF), caused by the absence or malfunction of a gene or group of genes on chromosome 22.
DiGeorge syndrome and the related conditions velocardiofacial syndrome and conotruncal anomaly face syndrome are characterized by the "CATCH-22" features: cardiac defects, abnormal facies, thymic dysfunction, cleft palate, and hypocalcemia caused by a deletion on chromosome 22.