Cabezas syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS15
CABEZAS SYNDROME
CABEZAS X-LINKED MENTAL RETARDATION SYNDROME
MENTAL RETARDATION, X-LINKED, SYNDROMIC 15
MRXSC
X-linked intellectual deficit, Cabezas type
Number of Symptoms 59
OrphanetNr: 85293
OMIM Id: 300354
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000054) Micropenis 257 / 7739
3
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
4
 (HPO:0000135) Hypogonadism 89 / 7739
5
 (HPO:0000047) Hypospadias 250 / 7739
6
 (HPO:0001357) Plagiocephaly Occasional [Orphanet] 106 / 7739
7
 (HPO:0004482) Relative macrocephaly 44 / 7739
8
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
9
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
10
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
11
 (HPO:0000280) Coarse facial features 189 / 7739
12
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
13
 (HPO:0000154) Wide mouth 137 / 7739
14
 (HPO:0000158) Macroglossia 119 / 7739
15
 (HPO:0002066) Gait ataxia 327 / 7739
16
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
17
 (HPO:0000752) Hyperactivity 140 / 7739
18
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0001344) Absent speech 57 / 7739
21
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
22
 (HPO:0000720) Mood swings 6 / 7739
23
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
24
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
25
 (HPO:0000771) Gynecomastia 53 / 7739
26
 (HPO:0000823) Delayed puberty 65 / 7739
27
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
28
 (HPO:0001763) Pes planus 176 / 7739
29
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
30
 (HPO:0001773) Short foot 86 / 7739
31
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
32
 (HPO:0001388) Joint laxity 117 / 7739
33
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
34
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
35
 (HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
36
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
37
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
38
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
39
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
40
 (HPO:0001956) Truncal obesity 39 / 7739
41
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
42
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
43
 (HPO:0001065) Striae distensae 26 / 7739
44
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
45
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
46
 (HPO:0001252) Muscular hypotonia 990 / 7739
47
 (OMIM) Wasted lower leg muscles 1 / 7739
48
 (OMIM) Aggressive outbursts 3 / 7739
49
 (OMIM) Decreased fine motor coordination 1 / 7739
50
 (HPO:0012743) Abdominal obesity 6 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
52
 (OMIM) Impaired/absent speech 1 / 7739
53
 (OMIM) Severe speech delay 4 / 7739
54
 (OMIM) Decreased attention span 1 / 7739
55
 (MedDRA:10072883) Brachydactyly 153 / 7739
56
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
57
 (OMIM) Wide sandal gap 2 / 7739
58
 (OMIM) Lack of speech development 20 / 7739
59
 (OMIM) Birthweight (<10th percentile) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of syndromic X-linked mental retardation is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000).
Clinical Description OMIM In a population survey for common hereditary diseases conducted in China in 1990, Wei et al. (1993) identified a family with X-linked mental retardation in 5 affected males in 4 sibships. The distinguishing manifestations were short stature, patulous ...
Molecular genetics OMIM By a systematic mutational screen of the X chromosome in 250 families with multiple members with X-linked mental retardation, Tarpey et al. (2007) found 8 families who carried mutations in the CUL4B gene (see, e.g., 300304.0001-300304.0003) on Xq24. ...