Extract from

VCFS Educational Foundation

Specialist Fact Sheet

Please read:- "Velo-cardio-facial syndrome (VCFS), also known Shprintzen Syndrome, and sometimes presenting as the DiGeorge Sequence, is known to be caused by a deletion of a small segment of the long arm of chromosome 22. It is one of the most common genetic disorders in humans. The following list shows the anomalies which have been found in VCFS.

None of these disorders occur with 100% frequency, but do occur with sufficient frequency to warrant assessment.

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Abdominal Genitourinary Pharyngeal
Cardiac Immunologic Psychological
Cognitive Infancy Sequences
Craniofacial Limb Skeletal
Ear Miscellaneous Skin
Endocrine Nasal Speech
Eye Neurologic Vascular

Abdominal / Kidney

Hypoplastic / aplastic kidneyDiaphragmatic Hernia(1 case)
Umbilical herniaMalrotation of Bowel (1 case)
Cystic KidneysHepatoblastoma (1 case)
Inguinal hernias


VSD (Ventricular septal defect)ASD (Atrial septal defect)
Pulmonic stenosisTetralogy of Fallot
Right sided aortaTruncus arteriosis
PDA (patent ductus arteriosis)Interrupted aorta
Coarctation of the aortaAortic valve anomalies
Aberrant subclavian arteriesVascular ring
Anomalous carotid artery origin

Cognitive / Learning

Learning disabilities: (mathematic concept, reading comprehension)Concrete thinking
Difficulty with abstractionDrop in IQ scores in school years: (test artifact)
Borderline normal intellectOccasional mild mental retardation
Attention Deficit Hyperactivity Disorder (ADHD)

Craniofacial / Oral

Small posterior cranial fossaOvert Submucous Cleft Palate
Occult Submucous Cleft PalateRetrognathia (retruded lower jaw)
Platybasia (cephalometric finding)Hypotonic, flacid facies
Asymmetric crying facies in infancyStructurally Asymetric face
Functionaly asymetric faceVertical maxillary excess
Straight facial profileEnamel hypoplasia
Congenitally missing teethSmall teeth
Downturned oral commissuresCleft lip (uncommon)

Ear / Hearing

Overfolded helixAttached Lobules
Relatively small earsMildly asymmetric ears
Frequent otitis mediaMild conductive hearing loss
Mild sensori-neural hearing loss Protuberant cup-shaped ears
Ear tags or pits (uncommon)Narrow external ear canals


HypothyroidismMild growth deficiency
Relative small statureAbsent, hypoplastic Thymus


Tortuous retinal vesselsSuborbital congestion ("allergic shiners)
Strabismus (squint)Narrow palpebral (eyelid) fissures
Posterior embryotoxinSmall optic disk
Prominent corneal nervesCataract
Iris nodulesIris Coloboma (rare)
Retinal coloboma (rare)Small eyes
Mild orbital hypertolerismPuffy eyelids




Frequent upper respiratory infectionsFrequent lower airway disease (pneumonia, bronchitis)
Reduced T cell populationsReduced thymic hormone

Problems in infancy

Feeding difficulty, Failure to thriveGastroesophageal reflux
Nasal regurgitationIrritability
Constipation (not related to Hirschsprung megacolon)Nasal regurgitation


Small hands and feetTapered digits
Short nailsRough, red scaley skin on hands and feet
MorpheaContractures (shortening of muscle or scar tissue)(uncommon)
Triphalangeal Thumbs (uncommon)Polydactyly (uncommon)


Spontaneous oxygen desauration without apnea
Thromboctopenia, Bernard-Soulier disease
Juvenile Rheumatoid arthritus


Prominent nasal bridgeBulbous nasal tip
Mildly bifid nasal tipPinched alar base, narrow nostrils
Narrow nasal passages

Neurologic and Brain (MR & CT)

Periventricular cysts (mostly at anterior horns)Small cerebellar vermis, small posterior fossa
White matter UBOs (unidentified bright objects)Cerebellar hypoplasia/dysgenesis
HypotoniaCerebellar ataxia (defective muscle control)
SeizuresSpina bifida / meningomyelocele
StrokesMild developemental delay

Pharangeal / Laryngeal / Airway

Upper airway obstruction in infancyAbsent or small adenoids
Laryngeal web (anterior)Large pharyngeal airway
LaryngomalaciaArytenoid hyperplasia
Pharyngeal hypotoniaAsymetric pharyngeal movement
Thin pharyngeal muscleUnilateral vocal cord paresis

Psychiatric / Psychological

Bipolar affective disorderMood disorder
Manic depressive illness/psychosisHypomania
Schizoaffective disorderImpulsiveness
Flat affectDysthymia
CyclothymiaSocial Immaturity
Rapid cycling of mood disorderDepression
Obsessive compulsive disorderGeneralized anxiety disorder

Secondary Sequences / Associations

Robin SequenceDiGeorge Sequence
Potter SequenceCHARGE Sequence
Holoproscencephaly (1 case)


Scoliosis, minor vertebral anomaliesSprengel's anomaly, scapular deformation
OsteopeniaTalipes equinovarus
Small skeletal musclesJoint dislocations
Chronic leg painsFlat foot arches
Hyerextensible / lax joints

Skin / Integument

Abundant scalp hair
Thin appearing skin (venous patterns easily seen)

Speech / Language

Sever hypernasalitySevere articulation impairment
Language impairment (usually mild delay)Velopharyngeal insufficiency (usually severe)
DyspraxiaHigh pitched voice

Vacsular Anomalies

Aberrant internal carotid arteriesAberrant internal vertebral arteries
Reynaud's phenomenonMedially displaced internal carotid arteries
Tortuous / kinked internal carotid arteriesLow bifurcation of common carotid
Missing or hypoplastic A1 segment in Circle of WillisSmall veins
Tortuous / kinked vertebral arteries


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