Clinical spectrum

Not all individuals with KdVS have all features that have been described. We try to describe the full clinical spectrum of the condition.

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Patient Overview


The most frequent clinical features of the 17q21.31 microdeletion.
Maat
Developmental delay/ mental retardation (58/58)
100 %  
Hypotonia (childhood) (53/57)
93 %  
Bulbous nasal tip (40/47)
85.1 %  
Friendly/amiable affect (43/52)
82.7 %  
Tubular or pear-shaped nose (46/57)
80.7 %  




Major

Frequency of major clinical findings of the 17q21.31 microdeletion
Maat
Developmental delay/ mental retardation (58/58)
100 %  
Hypotonia (childhood) (53/57)
93 %  
Cryptorchidism (17/27)
63 %  
Structural CNS anomalies (27/47)
57.4 %  
Epilepsy (29/58)
50 %  
Heart defects (23/57)
40.4 %  
Renal & urologic anomalies (19/53)
35.8 %  
Scoliosis/ kyphosis (17/58)
29.3 %  
Hip dislocation/ dysplasia (11/55)
20 %  
Head shape abnormality (8/58)
  13.8 %




All

Frequency of the clinical findings of the 17q31.31 microdeletion syndrome.

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Selected by: group of features - frequency

PercentageCases
Male48.2 %27/56
Female51.8 %29/56
General features
Low birth weight26.3 %15/57
Microcephaly3.5 %2/57
Short stature17.2 %10/58
Developmental delay/ mental retardation100 %58/58
Hypotonia (childhood)93 %53/57
Epilepsy50 %29/58
Facial features
Abnormal hair color/texture46.6 %27/58
High/broad forehead71.9 %41/57
Metopic ridge5.2 %3/58
Head shape abnormality13.8 %8/58
Long face67.4 %29/43
Pale irides40.9 %18/44
Upward slant44.8 %26/58
Blepharophimosis26.3 %15/57
Ptosis32.8 %19/58
Epicanthal folds53.4 %31/58
Nasal speech40 %12/30
Tubular or pear-shaped nose80.7 %46/57
Bulbous nasal tip85.1 %40/47
Large/prominent ears48.3 %28/58
Narrow/high palate46.7 %21/45
Broad chin31.8 %14/44
Cleft palate6.9 %4/58
Ophthalmological features
Hypermetropia33.3 %18/54
Cataract1.8 %1/56
Strabismus31.6 %18/57
Extremities
Narrow hands25.6 %10/39
Slender/long fingers51.2 %22/43
Hypoplasia hand muscles27 %10/37
Hip dislocation/ dysplasia20 %11/55
Slender lower limbs39.5 %15/38
Positional deformity feet30.9 %17/55
Joint hyperlaxity59.5 %22/37
Heart defects
Heart defects40.4 %23/57
ASD22.8 %13/57
VSD14 %8/57
AVSD1.8 %1/57
Renal & urologic anomalies
Renal & urologic anomalies35.8 %19/53
Vesicoureteric reflux9.4 %5/53
Hydronephrosis9.4 %5/53
Pyelectasis5.8 %3/52
Duplex renal system7.5 %4/53
Structural CNS anomalies
Structural CNS anomalies57.4 %27/47
Ventriculomegaly33.3 %16/48
Hydrocephalus6.4 %3/47
Periventricular white matter changes10.6 %5/47
Agenesis/hypoplasia corpus callosum27.7 %13/47
Global cerebral atrophy4.3 %2/47
Other congenital malfomations
Tracheo/larynchomalacia12.1 %7/58
Pectus excavatum22.4 %13/58
Pyloric stenosis3.6 %2/56
Fused vertrebrae3.8 %2/52
Scoliosis/ kyphosis29.3 %17/58
Spondylolisthesis3.6 %2/55
Cryptorchidism63 %17/27
Other clinical features
Friendly/amiable affect82.7 %43/52
Behavioral problems (please specify)17.5 %10/57
Ichtyosis1.7 %1/58
Psoriasis1.7 %1/58
Multiple moles1.7 %1/58
Eczema3.4 %2/58
Neonatal haemorrhagic parenchymal infarction3.4 %2/58
Aortic thrombus1.7 %1/58
Hypothyroidism1.7 %1/58
Neutropenia3.4 %2/58