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

[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

Catch-22 syndrome

An uncommon synonym for 22q11.2 deletion syndrome, which affects 1 in 4,000 and is characterised by cleft palate, congenital heart defects, learning disabilities, and nearly 200 possible other clinical findings, including head and neck deformities.

Diagnosis
FISH

Shprintzen syndrome

VCf syndrome, velo-cardio-facial syndrome A congenital anomaly with cleft palate, heart defect, abnormal face, learning defects, short stature, microcephaly, mental retardation, ear anomalies, slender hands/digits, inguinal hernia.

Shprintzen,

Robert J., 20th century U.S. geneticist.
Shprintzen syndrome - Synonym(s): velocardiofacial syndrome
References in periodicals archive ?
It is now recognized that a 22q11.2 deletion is the cause of several syndromes, including DiGeorge syndrome (de la Chapelle, Herva, Koivisto, & Aula, 1981; DiGeorge, 1965), cardiofacial syndrome (Cayler, 1969; Giannotti, Digilio, Marino, Mingarelli, & Dallapiccola, 1994), conotruncal anomaly face syndrome (Takao syndrome) (Burn et al., 1993; Kinouchi, Mori, Ando, & Takao, 1976; Matsuoka et al., 1994; Takao, Ando, Cho, Kinouchi, & Murakami, 1980), velocardiofacial syndrome (Shprintzen syndrome) (Driscoll et al., 1993; Shprintzen et al., 1978), and cases of autosomal dominant Opitz G/BBB syndrome (McDonald-McGinn et al., 1995; Opitz, Frias, Gutenberger, & Pellet, 1969; Opitz, Summitt, & Smith, 1969).
Velocardiofacial syndrome (Shprintzen syndrome, DiGeorge syndrome) is a genetic, multiple-anomaly disease associated with a deletion of DNA from chromosome 22.1 Its prevalence is estimated at 1 in 2,000 in the United States.
Silva-Rojas, "Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome)," International Journal of Pediatric Otorhinolaryngology, vol.
MERGEFIELD background Velocardiofacial syndrome (VCFS), also known as DiGeorge or Shprintzen syndrome, is associated with small deletions of chromosome 22q11.
Also known as Shprintzen syndrome and DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) is the second most common genetic disorder causing multiple anomalies.
(10) It is also referred to as a 22q11.2 deletion syndrome (22qDS) and includes phenotypes previously referred to as DiGeorge syndrome or Shprintzen syndrome. VCFS is the most common microdeletion syndrome in humans.