Both sexes affected |
+ |
|
|
Severe face dysmorphisms
(i.e. large forehead, flat face – maxillary hypoplasia, hypertelorism,
Epicanthal folds, Narrow palpebral fissures, Pear shaped nose, Dental
malocclusion, ear abnormalities, small deformed ears)
|
+
|
|
|
Mild face dysmorphisms
(i.e. microphtalmia, prominent premaxilla with upturned nasal tip and
sparse lateral eyebrows)
|
|
+
|
+/-
(only mild microphtalmia)
|
Multiple skull abnormalities
(i.e. Sclerotic base of the skull, thickened frontal bone maxillary
hypoplasia)
|
+
|
|
|
Skeletal abnormalities
(i.e. narrow thorax with short clavicles, limb bone abnormalities
[metacarpals, phalanges, others], abnormal pattern of ossification,
scoliosis, generalized osteopenia, narrow thorax with short
clavicles)
|
+
|
+/-
|
|
Hyperlaxity of joints |
+ |
|
|
Camptodactyly and/or palmar, plantar interphalangeal dystonia |
+ |
|
+ |
Respiratory tract malformations (i.e. upper airway obstruction, choanal
atresia/stenosis, tracheomalacia) |
+ |
|
|
Small kidneys |
+ |
|
|
Chorioretinal lacunae |
|
+ |
+ |
Hearing loss |
+ |
|
|
Brain asymmetry |
+ |
|
+ |
Abnormal corpus callosum |
+ |
+ |
+ |
Subcortical/Periventricular heterotopias |
+ |
+ |
+ |
Polymicrogyria |
|
+ |
+ |
Large lateral ventricles |
+ |
|
+/- |
Reduced volume of pons & cerebellum |
+ |
|
|
Thin optic nerves |
+ |
|
|
Drug-resistant epilepsy |
|
+ |
+ |
Infantile Hypotonia |
+ |
|
+/- |
Developmental delay |
+ |
+ |
+ |
Early feeding difficulties |
+ |
|
|
Genetics
|
DCHS1 mutations
|
Mainly unknown.
X chromosome anomalies? Somatic Mosaicism?
Two cases monogenic (other than X-chromosome)
|
DCHS1 compound heterozygosis c.7408G>T and
c.3512G>A
|