Intellectual deficit, X-linked - craniofacioskeletal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 71
OrphanetNr: 163979
OMIM Id: 300712
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000322) Short philtrum 130 / 7739
5
 (HPO:0000452) Choanal stenosis 23 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0004502) Bilateral choanal atresia 2 / 7739
8
 (HPO:0000453) Choanal atresia 76 / 7739
9
 (HPO:0000581) Blepharophimosis 197 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
12
 (HPO:0000239) Large fontanelles 135 / 7739
13
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
14
 (HPO:0000260) Wide anterior fontanel 55 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
16
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
17
 (HPO:0000325) Triangular face 91 / 7739
18
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000175) Cleft palate 349 / 7739
21
 (HPO:0002738) Hypoplastic frontal sinuses 6 / 7739
22
 (HPO:0008551) Microtia 98 / 7739
23
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
24
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
25
 (HPO:0001263) Global developmental delay 853 / 7739
26
 (HPO:0006610) Wide intermamillary distance 46 / 7739
27
 (HPO:0001786) Narrow foot 11 / 7739
28
 (HPO:0001773) Short foot 86 / 7739
29
 (HPO:0000914) Shield chest 14 / 7739
30
 (HPO:0001552) Barrel-shaped chest 31 / 7739
31
 (HPO:0001822) Hallux valgus 70 / 7739
32
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
33
 (HPO:0200055) Small hand 71 / 7739
34
 (HPO:0001838) Rocker bottom foot 85 / 7739
35
 (HPO:0001763) Pes planus 176 / 7739
36
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
37
 (HPO:0001761) Pes cavus 225 / 7739
38
 (HPO:0004279) Short palm 323 / 7739
39
 (HPO:0001765) Hammertoe 63 / 7739
40
 (HPO:0002868) Narrow iliac wings 15 / 7739
41
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
42
 (HPO:0011467) Absent gallbladder 6 / 7739
43
 (HPO:0004322) Short stature 1232 / 7739
44
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
45
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
46
 (HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
47
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
48
 (HPO:0001629) Ventricular septal defect 316 / 7739
49
 (HPO:0001631) Atria septal defect 274 / 7739
50
 (HPO:0011611) Interrupted aortic arch 10 / 7739
51
 (HPO:0002901) Hypocalcemia 56 / 7739
52
 (HPO:0002777) Tracheal stenosis 35 / 7739
53
 (OMIM) Extra superior temporal gyrus (female) 1 / 7739
54
 (OMIM) IQ 85-115 (female) 1 / 7739
55
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
56
 (OMIM) Soft tissue growths at angle of mouth (female) 1 / 7739
57
 (OMIM) Absent/hypoplastic frontal sinuses (female) 1 / 7739
58
 (OMIM) Cortical thickening of long bones (female) 1 / 7739
59
 (OMIM) Cortical thickening of metacarpals (female) 1 / 7739
60
 (OMIM) Widened suture 4 / 7739
61
 (OMIM) Normal parathyroid hormone 2 / 7739
62
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
63
 (MedDRA:10072883) Brachydactyly 153 / 7739
64
 (OMIM) Skewed X-inactivation in females 1 / 7739
65
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
66
 (OMIM) Normal calcium (female) 1 / 7739
67
 (HPO:0012745) Short palpebral fissure 47 / 7739
68
 (OMIM) Two-vessel umbilical cord (male) 1 / 7739
69
 (OMIM) Excessive number of fingerprint arches (female) 1 / 7739
70
 (OMIM) Decreased brain volume (female) 1 / 7739
71
 (OMIM) Small toenails 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stevenson et al. (2007) characterized an X-linked multisystem disorder with female expression and early postnatal lethality in males in a 3-generation family. The 7 affected females had microcephaly, short stature, short philtrum, thin upper lip, soft tissue excrescences ...