Microcephalic primordial dwarfism, Toriello type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 37
OrphanetNr: 2643
OMIM Id: 251190
ICD-10: Q87.1
UMLs: C1855089
MeSH: C537321
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
6
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
7
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0009466) Radial deviation of finger 101 / 7739
10
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
11
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
12
 (HPO:0001773) Short foot 86 / 7739
13
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
14
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
15
 (HPO:0009638) Short proximal phalanx of thumb 4 / 7739
16
 (HPO:0003795) Short middle phalanx of toe 4 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0010107) Short proximal phalanx of hallux 3 / 7739
19
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
20
 (HPO:0003510) Severe short stature 90 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
24
 (HPO:0001875) Neutropenia 83 / 7739
25
 (HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
26
 (HPO:0002850) IgM deficiency 18 / 7739
27
 (HPO:0004315) IgG deficiency 38 / 7739
28
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
29
 (HPO:0011947) Respiratory tract infection 28 / 7739
30
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
31
 (OMIM) Micrognathia, mild 8 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
34
 (HPO:0030084) Clinodactyly 90 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
36
 (MedDRA:10058668) Clinodactyly 91 / 7739
37
 (OMIM) Decreased IgG 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Toriello et al. (1986) described 2 sisters with a syndrome of prenatal-onset growth deficiency, microcephaly and mental retardation apparently different from the Seckel syndrome-like disorders (e.g., 210710, 210720, 210730) and from other previously reported syndromes. Additional features were ...