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.

单词	velocardiofacial syndrome
释义	DictionarySeesyndrome velocardiofacial syndrome velocardiofacial syndrome [MIM192430] 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 [MIM192430] 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.
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