Patient Overview
The most frequent clinical features of the 17q21.31 microdeletion.
|  |
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
|  |
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.
| Percentage | | Cases | |
Male | 48.2 % | | 27/56 | |
Female | 51.8 % | | 29/56 | |
|
General features |
Low birth weight | 26.3 % | | 15/57 | |
Microcephaly | 3.5 % | | 2/57 | |
Short stature | 17.2 % | | 10/58 | |
Developmental delay/ mental retardation | 100 % | | 58/58 | |
Hypotonia (childhood) | 93 % | | 53/57 | |
Epilepsy | 50 % | | 29/58 | |
Facial features |
Abnormal hair color/texture | 46.6 % | | 27/58 | |
High/broad forehead | 71.9 % | | 41/57 | |
Metopic ridge | 5.2 % | | 3/58 | |
Head shape abnormality | 13.8 % | | 8/58 | |
Long face | 67.4 % | | 29/43 | |
Pale irides | 40.9 % | | 18/44 | |
Upward slant | 44.8 % | | 26/58 | |
Blepharophimosis | 26.3 % | | 15/57 | |
Ptosis | 32.8 % | | 19/58 | |
Epicanthal folds | 53.4 % | | 31/58 | |
Nasal speech | 40 % | | 12/30 | |
Tubular or pear-shaped nose | 80.7 % | | 46/57 | |
Bulbous nasal tip | 85.1 % | | 40/47 | |
Large/prominent ears | 48.3 % | | 28/58 | |
Narrow/high palate | 46.7 % | | 21/45 | |
Broad chin | 31.8 % | | 14/44 | |
Cleft palate | 6.9 % | | 4/58 | |
Ophthalmological features |
Hypermetropia | 33.3 % | | 18/54 | |
Cataract | 1.8 % | | 1/56 | |
Strabismus | 31.6 % | | 18/57 | |
Extremities |
Narrow hands | 25.6 % | | 10/39 | |
Slender/long fingers | 51.2 % | | 22/43 | |
Hypoplasia hand muscles | 27 % | | 10/37 | |
Hip dislocation/ dysplasia | 20 % | | 11/55 | |
Slender lower limbs | 39.5 % | | 15/38 | |
Positional deformity feet | 30.9 % | | 17/55 | |
Joint hyperlaxity | 59.5 % | | 22/37 | |
Heart defects |
Heart defects | 40.4 % | | 23/57 | |
ASD | 22.8 % | | 13/57 | |
VSD | 14 % | | 8/57 | |
AVSD | 1.8 % | | 1/57 | |
Renal & urologic anomalies |
Renal & urologic anomalies | 35.8 % | | 19/53 | |
Vesicoureteric reflux | 9.4 % | | 5/53 | |
Hydronephrosis | 9.4 % | | 5/53 | |
Pyelectasis | 5.8 % | | 3/52 | |
Duplex renal system | 7.5 % | | 4/53 | |
Structural CNS anomalies |
Structural CNS anomalies | 57.4 % | | 27/47 | |
Ventriculomegaly | 33.3 % | | 16/48 | |
Hydrocephalus | 6.4 % | | 3/47 | |
Periventricular white matter changes | 10.6 % | | 5/47 | |
Agenesis/hypoplasia corpus callosum | 27.7 % | | 13/47 | |
Global cerebral atrophy | 4.3 % | | 2/47 | |
Other congenital malfomations |
Tracheo/larynchomalacia | 12.1 % | | 7/58 | |
Pectus excavatum | 22.4 % | | 13/58 | |
Pyloric stenosis | 3.6 % | | 2/56 | |
Fused vertrebrae | 3.8 % | | 2/52 | |
Scoliosis/ kyphosis | 29.3 % | | 17/58 | |
Spondylolisthesis | 3.6 % | | 2/55 | |
Cryptorchidism | 63 % | | 17/27 | |
Other clinical features |
Friendly/amiable affect | 82.7 % | | 43/52 | |
Behavioral problems (please specify) | 17.5 % | | 10/57 | |
Ichtyosis | 1.7 % | | 1/58 | |
Psoriasis | 1.7 % | | 1/58 | |
Multiple moles | 1.7 % | | 1/58 | |
Eczema | 3.4 % | | 2/58 | |
Neonatal haemorrhagic parenchymal infarction | 3.4 % | | 2/58 | |
Aortic thrombus | 1.7 % | | 1/58 | |
Hypothyroidism | 1.7 % | | 1/58 | |
Neutropenia | 3.4 % | | 2/58 | |