Juberg-Marsidi syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CHUDLEY-LOWRY SYNDROME
XLMR-HYPOTONIC FACIES SYNDROME
MRXHF1
SMITH-FINEMAN-MYERS SYNDROME 1
HOLMES-GANG SYNDROME
JUBERG-MARSIDI SYNDROME
CARPENTER-WAZIRI SYNDROME
MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM
SFMS
JMS
SFM1
Number of Symptoms 73
OrphanetNr: 93972
OMIM Id: 309580
ICD-10:
UMLs: C0796003
MeSH: C537457
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 16 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
X-linked intellectual deficit - hypotonic face
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
4
 (HPO:0000135) Hypogonadism 89 / 7739
5
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
6
 (HPO:0000089) Renal hypoplasia 78 / 7739
7
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
8
 (HPO:0008734) Decreased testicular size 105 / 7739
9
 (HPO:0000054) Micropenis 257 / 7739
10
 (HPO:0000047) Hypospadias 250 / 7739
11
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
12
 (HPO:0000470) Short neck 345 / 7739
13
 (HPO:0000341) Narrow forehead 96 / 7739
14
 (HPO:0000218) High palate 356 / 7739
15
 (HPO:0000463) Anteverted nares 305 / 7739
16
 (HPO:0000316) Hypertelorism 644 / 7739
17
 (HPO:0000280) Coarse facial features 189 / 7739
18
 (HPO:0000431) Wide nasal bridge 290 / 7739
19
 (HPO:0000154) Wide mouth 137 / 7739
20
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
21
 (HPO:0000286) Epicanthus 371 / 7739
22
 (HPO:0000194) Open mouth 70 / 7739
23
 (HPO:0000268) Dolichocephaly 144 / 7739
24
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
25
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
26
 (HPO:0002307) Drooling 43 / 7739
27
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
28
 (HPO:0000347) Micrognathia 426 / 7739
29
 (HPO:0000252) Microcephaly 832 / 7739
30
 (HPO:0011800) Midface retrusion 221 / 7739
31
 (HPO:0010808) Protruding tongue 28 / 7739
32
 (HPO:0000451) Triangular nasal tip 8 / 7739
33
 (HPO:0005280) Depressed nasal bridge 381 / 7739
34
 (HPO:0000648) Optic atrophy 238 / 7739
35
 (HPO:0000577) Exotropia 43 / 7739
36
 (HPO:0000508) Ptosis 459 / 7739
37
 (HPO:0000486) Strabismus 576 / 7739
38
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
39
 (HPO:0000369) Low-set ears 372 / 7739
40
 (HPO:0008551) Microtia 98 / 7739
41
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
42
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
43
 (HPO:0000752) Hyperactivity 140 / 7739
44
 (HPO:0001347) Hyperreflexia 363 / 7739
45
 (HPO:0001250) Seizures 1245 / 7739
46
 (HPO:0000749) Paroxysmal bursts of laughter 8 / 7739
47
 (HPO:0001763) Pes planus 176 / 7739
48
 (HPO:0001762) Talipes equinovarus 309 / 7739
49
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
50
 (HPO:0002751) Kyphoscoliosis 131 / 7739
51
 (HPO:0001884) Talipes calcaneovalgus 14 / 7739
52
 (HPO:0002857) Genu valgum 144 / 7739
53
 (HPO:0002013) Vomiting 191 / 7739
54
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
55
 (HPO:0002019) Constipation 194 / 7739
56
 (HPO:0004322) Short stature 1232 / 7739
57
 (HPO:0001510) Growth delay 295 / 7739
58
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
59
 (OMIM) Hypertonia of lower limbs, later 7 / 7739
60
 (OMIM) Slender, tapering fingers 7 / 7739
61
 (OMIM) Clinodactyly of isolated digits 8 / 7739
62
 (OMIM) Mental retardation, severe, profound 7 / 7739
63
 (MedDRA:10072883) Brachydactyly 153 / 7739
64
 (OMIM) Short, thin upper lip 7 / 7739
65
 (OMIM) Repetitive, self-stimulatory behavior using upper limbs 7 / 7739
66
 (OMIM) Gut dysmotility 7 / 7739
67
 (OMIM) Absence of Hb H inclusions in red blood cells 7 / 7739
68
 (OMIM) Obesity, mild (less common) 8 / 7739
69
 (OMIM) Self-absorbed 7 / 7739
70
 (OMIM) Small philtrum 7 / 7739
71
 (OMIM) Fingers in mouth 7 / 7739
72
 (OMIM) Hyperfolded ears 7 / 7739
73
 (OMIM) Everted ears 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found ...
Clinical Description OMIM Smith et al. (1980) described 2 brothers with a combination of mental retardation, microcephaly, short stature, and unusual facial appearance, including slanted palpebral fissures, narrow face with maxillary overjet, alternating exotropia, and ptosis. Muscle tone was hypotonic, but ...
Molecular genetics OMIM In 1 surviving affected member and many heterozygous carriers of a family previously reported by Mattei et al. (1983) as having Juberg-Marsidi syndrome, Villard et al. (1996) identified a mutation in the ATRX gene (300032.0011).

In ...