Chudley-Lowry-Hoar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: 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
chudley-lowry syndrome
Number of Symptoms 73
OrphanetNr: 93971
OMIM Id: 309580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

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