Pseudoprogeria syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOPROGERIA SYNDROME
Hal-Berg-Rudolph syndrome
Eyebrows and eyelashes absence - intellectual deficit
Number of Symptoms 36
OrphanetNr: 2985
OMIM Id: 200130
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic progeroid syndrome
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis
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:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
2
 (HPO:0003196) Short nose 2/2 [HPO:probinson] 264 / 7739
3
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
4
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
5
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
6
 (HPO:0002084) Encephalocele 1/2 [HPO:probinson] 70 / 7739
7
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 2/2 [HPO:probinson] 87 / 7739
8
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 2/2 [HPO:probinson] 832 / 7739
9
 (HPO:0000561) Absent eyelashes 2/2 [HPO:probinson] 18 / 7739
10
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
11
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
12
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
13
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
14
 (HPO:0002223) Absent eyebrow 2/2 [HPO:probinson] 21 / 7739
15
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
16
 (HPO:0000501) Glaucoma Frequent [Orphanet] 2/2 [HPO:probinson] 180 / 7739
17
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
18
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
19
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
20
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
21
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
22
 (HPO:0002478) Progressive spastic quadriplegia 2/2 [HPO:probinson] 7 / 7739
23
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
24
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
25
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
26
 (HPO:0004404) Abnormality of the nipple Frequent [Orphanet] 54 / 7739
27
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
28
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
29
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0007587) Numerous pigmented freckles Very frequent [Orphanet] 22 / 7739
32
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
33
 (OMIM) Spinal cyst 1 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
36
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: