Renier-Gabreels-Jasper 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: | 93975 |
OMIM Id: |
309580
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 5 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:
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(HPO:0000076) | Vesicoureteral reflux | 94 / 7739 | ||||
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(HPO:0000054) | Micropenis | 257 / 7739 | ||||
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(HPO:0008734) | Decreased testicular size | 105 / 7739 | ||||
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(HPO:0000104) | Renal agenesis | 68 / 7739 | ||||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0000135) | Hypogonadism | 89 / 7739 | ||||
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(HPO:0000046) | Scrotal hypoplasia | 54 / 7739 | ||||
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(HPO:0010958) | Bilateral renal agenesis | 16 / 7739 | ||||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0010808) | Protruding tongue | 28 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0010804) | Tented upper lip vermilion | 47 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000194) | Open mouth | 70 / 7739 | ||||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000154) | Wide mouth | 137 / 7739 | ||||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0010806) | U-Shaped upper lip vermilion | 18 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0001566) | Widely-spaced maxillary central incisors | 15 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000341) | Narrow forehead | 96 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0002307) | Drooling | 43 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000451) | Triangular nasal tip | 8 / 7739 | ||||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000577) | Exotropia | 43 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0000752) | Hyperactivity | 140 / 7739 | ||||
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(HPO:0000749) | Paroxysmal bursts of laughter | 8 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0001884) | Talipes calcaneovalgus | 14 / 7739 | ||||
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(HPO:0002857) | Genu valgum | 144 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
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(HPO:0002019) | Constipation | 194 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(OMIM) | Everted ears | 7 / 7739 | ||||
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(OMIM) | Hypertonia of lower limbs, later | 7 / 7739 | ||||
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(OMIM) | Clinodactyly of isolated digits | 8 / 7739 | ||||
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(OMIM) | Mental retardation, severe, profound | 7 / 7739 | ||||
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(OMIM) | Self-absorbed | 7 / 7739 | ||||
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(OMIM) | Short, thin upper lip | 7 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(OMIM) | Slender, tapering fingers | 7 / 7739 | ||||
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(OMIM) | Obesity, mild (less common) | 8 / 7739 | ||||
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(OMIM) | Small philtrum | 7 / 7739 | ||||
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(OMIM) | Repetitive, self-stimulatory behavior using upper limbs | 7 / 7739 | ||||
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(OMIM) | Hyperfolded ears | 7 / 7739 | ||||
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(OMIM) | Fingers in mouth | 7 / 7739 | ||||
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(OMIM) | Gut dysmotility | 7 / 7739 | ||||
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(OMIM) | Absence of Hb H inclusions in red blood cells | 7 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |