Intellectual deficit - myopathy - short stature - endocrine defect

General Information (adopted from Orphanet):

Synonyms, Signs: CHUDLEY SYNDROME
Chudley-Rozdilsky syndrome
Number of Symptoms 44
OrphanetNr: 3068
OMIM Id: 253320
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
4
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
5
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
6
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
7
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
8
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
9
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
10
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
11
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
12
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
13
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
14
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
15
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
16
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
17
 (HPO:0010864) Intellectual disability, severe 120 / 7739
18
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
19
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
20
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
21
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
22
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
23
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
24
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
25
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
26
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
27
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
29
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
30
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
31
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
32
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
34
 (HPO:0003198) Myopathy 151 / 7739
35
 (OMIM) Small sella 1 / 7739
36
 (OMIM) Lumbar lordosis, exaggerated 1 / 7739
37
 (OMIM) Muscle biopsies show variation in fibrodiameter, internal nuclei, atrophy of type I fibers, focal loss of cross- striations, and cores of myofibrillar disruption with associated absence of mitochondria 1 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
40
 (OMIM) Mild muscle weakness 4 / 7739
41
 (OMIM) Congenital, nonprogressive myopathy 1 / 7739
42
 (OMIM) Normal growth hormone responses to arginine, L-dopa, and propranolol stimulation 1 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
44
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: