Intellectual deficit - balding - patella luxation - acromicria

General Information (adopted from Orphanet):

Synonyms, Signs: EARLY BALDING, PATELLA LUXATION, ACROMICRIA, AND HYPOGONADISM
Scholte-Begeer-van Essen syndrome
Number of Symptoms 45
OrphanetNr: 3041
OMIM Id: 181515
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acromelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
3
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
4
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
6
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
7
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
8
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
9
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
10
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
11
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
12
 (HPO:0001999) Abnormal facial shape 169 / 7739
13
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
14
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
15
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
16
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
17
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
18
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
22
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
23
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
24
 (HPO:0002999) Patellar dislocation Frequent [Orphanet] 46 / 7739
25
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
26
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
27
 (HPO:0001367) Abnormal joint morphology 53 / 7739
28
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
29
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
30
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
31
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
32
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
33
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
34
 (HPO:0004279) Short palm 323 / 7739
35
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
36
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
37
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
38
 (HPO:0002234) Early balding 2 / 7739
39
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
40
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
41
 (OMIM) Small hands and feet 1 / 7739
42
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
44
 (OMIM) Patella luxations. + 1 / 7739
45
 (OMIM) Acromicria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scholte et al. (1991) described a severely mentally retarded male with early balding, facial dysmorphism, patella luxations, acromicria, and hypogonadism. Fryns et al. (1993) described 2 unrelated males who appeared to have the same syndrome. Early balding, patella ...