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

velocardiofacial syndrome

[vel′ō·kär′dē·ō·fā′shəl]
an autosomal-dominant syndrome of cardiac defects and characteristic craniofacial abnormalities, including cleft palate, jaw abnormalities, and prominent nose. It is often associated with abnormalities of chromosome 22. Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly occur less frequently. Also called Shprintzen's 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 ?
Next-generation sequencing was performed upon ccf DNA isolated from plasma samples of the 16 pregnant women, 2 of whom were confirmed by karyotype analysis after amniocentesis to be carrying a fetus affected by chromosome 22q11.
Patients with Certain Conotruncal Defects Should Be Screened for Chromosome 22q11.
A relatively common genetic disorder, chromosome 22q11.
He recently published two studies of patients at The Children's Hospital of Philadelphia with chromosome 22q11.
Researchers have known for some time that children with chromosome 22q11.
The Hospital also is a world leader in studying and treating children with chromosome 22q11.

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