Renpenning syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA
SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME
MENTAL RETARDATION, X-LINKED, SYNDROMIC 8
MENTAL RETARDATION, X-LINKED, SYNDROMIC 3
MENTAL RETARDATION, X-LINKED, RENPENNING TYPE
GOLABI-ITO-HALL SYNDROME
MENTAL RETARDATION, X-LINKED 55
SHS
MRX55
MRXS3
MRXS8
RENS1
X-linked intellectual deficit, Renpenning type
X-linked intellectual deficit due to PQBP1 mutations
Number of Symptoms 103
OrphanetNr: 3242
OMIM Id: 309500
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 64 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -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:0000104) Renal agenesis 68 / 7739
2
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
3
 (HPO:0001741) Phimosis 5 / 7739
4
 (HPO:0000089) Renal hypoplasia rare [HPO:skoehler] 78 / 7739
5
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
6
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
7
 (HPO:0000414) Bulbous nose 63 / 7739
8
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
9
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
10
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
11
 (HPO:0000528) Anophthalmia 42 / 7739
12
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
13
 (HPO:0000275) Narrow face Frequent [Orphanet] 76 / 7739
14
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
15
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
16
 (HPO:0000274) Small face Frequent [Orphanet] 18 / 7739
17
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
18
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
19
 (HPO:0000272) Malar flattening Frequent [Orphanet] 277 / 7739
20
 (HPO:0000431) Wide nasal bridge 290 / 7739
21
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
22
 (HPO:0000347) Micrognathia 426 / 7739
23
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
24
 (HPO:0000218) High palate 356 / 7739
25
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
26
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
27
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
28
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
29
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
30
 (HPO:0001572) Macrodontia Occasional [Orphanet] 9 / 7739
31
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
32
 (HPO:0010761) Broad columella Occasional [Orphanet] 10 / 7739
33
 (HPO:0000175) Cleft palate 349 / 7739
34
 (HPO:0011478) True anophthalmia 17 / 7739
35
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
36
 (HPO:0000572) Visual loss 272 / 7739
37
 (HPO:0000589) Coloboma 47 / 7739
38
 (HPO:0000618) Blindness 124 / 7739
39
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
40
 (HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
41
 (HPO:0000611) Choroid coloboma 12 / 7739
42
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
43
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
44
 (HPO:0000411) Protruding ear 140 / 7739
45
 (HPO:0000365) Hearing impairment 539 / 7739
46
 (HPO:0000400) Macrotia 108 / 7739
47
 (HPO:0100830) Round ear Frequent [Orphanet] 7 / 7739
48
 (HPO:0000377) Abnormality of the pinna 111 / 7739
49
 (HPO:0000378) Cupped ear 34 / 7739
50
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
51
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
52
 (HPO:0001347) Hyperreflexia 363 / 7739
53
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
54
 (HPO:0000739) Anxiety 67 / 7739
55
 (HPO:0001249) Intellectual disability 1089 / 7739
56
 (HPO:0001257) Spasticity 251 / 7739
57
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
58
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
59
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
60
 (HPO:0001786) Narrow foot 11 / 7739
61
 (HPO:0012385) Camptodactyly 113 / 7739
62
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
63
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
64
 (HPO:0001761) Pes cavus 225 / 7739
65
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
66
 (HPO:0002650) Scoliosis 705 / 7739
67
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
68
 (HPO:0009473) Joint contracture of the hand 84 / 7739
69
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
70
 (HPO:0001696) Situs inversus totalis 44 / 7739
71
 (HPO:0003363) Abdominal situs inversus Occasional [Orphanet] 19 / 7739
72
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
73
 (HPO:0002033) Poor suck 37 / 7739
74
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
75
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
76
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
77
 (HPO:0002299) Brittle hair Occasional [Orphanet] 52 / 7739
78
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
79
 (HPO:0008070) Sparse hair 94 / 7739
80
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
81
 (HPO:0001629) Ventricular septal defect 316 / 7739
82
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
83
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
84
 (HPO:0001611) Nasal speech 48 / 7739
85
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
86
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
87
 (OMIM) Lean body build 1 / 7739
88
 (HPO:0012444) Brain atrophy 24 / 7739
89
 (HPO:0002059) Cerebral atrophy 171 / 7739
90
 (OMIM) [DEL]Autistic features 43 / 7739
91
 (OMIM) Large, ridged nose 1 / 7739
92
 (OMIM) Muscle atrophy affecting the upper back and neck muscles 1 / 7739
93
 (OMIM) Long narrow face 11 / 7739
94
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
95
 (OMIM) Central balding 1 / 7739
96
 (MedDRA:10072019) Renal malposition 1 / 7739
97
 (OMIM) Overhanging columella 1 / 7739
98
 (OMIM) Terminal spine defects 1 / 7739
99
 (OMIM) Velar dysfunction 1 / 7739
100
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
101
 (OMIM) Long, curved eyelashes 1 / 7739
102
 (OMIM) Poor feeding and sucking in infancy 1 / 7739
103
 (OMIM) Ankylosis of the thumb metacarpophalangeal joint 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. ...
Clinical Description OMIM Renpenning et al. (1962) reported a Dutch Mennonite pedigree from Alberta and Saskatchewan in which X-linked mental retardation was associated with short stature, moderate microcephaly, unremarkable facies, and no other neurologic abnormalities. This pedigree was reexamined by Fox ...
Molecular genetics OMIM In 5 of 29 families with X-linked mental retardation, Kalscheuer et al. (2003) identified mutations in the PQBP1 gene (300463.0001-300463.0003). The family reported by Sutherland et al. (1988) and a family with a similar phenotype, but without spasticity ...