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 | |
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