Microcephalic primordial dwarfism, Dauber type

General Information (adopted from Orphanet):

Synonyms, Signs: SCKL7
Number of Symptoms 34
OrphanetNr: 319675
OMIM Id: 614851
ICD-10: Q87.1
UMLs:
MeSH:
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:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0000448) Prominent nose 56 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000601) Hypotelorism 83 / 7739
5
(HPO:0008551) Microtia 98 / 7739
6
(HPO:0010864) Intellectual disability, severe 120 / 7739
7
(HPO:0011344) Severe global developmental delay 46 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0011787) Central hypothyroidism 4 / 7739
10
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
11
(HPO:0004626) Lumbar scoliosis 5 / 7739
12
(HPO:0003067) Madelung deformity 9 / 7739
13
(HPO:0002750) Delayed skeletal maturation 250 / 7739
14
(HPO:0001191) Abnormality of the carpal bones rare [HPO:skoehler] 6 / 7739
15
(HPO:0001385) Hip dysplasia 242 / 7739
16
(HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
17
(HPO:0001511) Intrauterine growth retardation 358 / 7739
18
(HPO:0003510) Severe short stature 90 / 7739
19
(OMIM) Central hypothyroidism, borderline 1 / 7739
20
(OMIM) Short fifth middle phalanx (in some patients) 1 / 7739
21
(OMIM) Delayed bone age (2 to 3 years) during childhood 1 / 7739
22
(OMIM) Prepubertal breast development 1 / 7739
23
(OMIM) Hip dysplasia, bilateral 2 / 7739
24
(OMIM) Microcephaly, severe 4 / 7739
25
(OMIM) Normal follicle-stimulating hormone (FSH) 1 / 7739
26
(OMIM) Normal luteinizing hormone (LH) 1 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(OMIM) Insensitivity to growth hormone therapy 1 / 7739
29
(OMIM) Modestly low estradiol 1 / 7739
30
(OMIM) Foreshortened ulna (Madelung deformity) 1 / 7739
31
(OMIM) Developmental delay, significant 1 / 7739
32
(OMIM) Lumbar scoliosis, mild 1 / 7739
33
(OMIM) Small ovaries 4 / 7739
34
(OMIM) Small uterus 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dauber et al. (2012) reported 2 sisters, 22 years and 18 years of age, who had severe pre- and postnatal growth retardation, microcephaly, and developmental delay. Both were given growth hormone but had suboptimal response, with resultant severe ...
Molecular genetics OMIM In 2 sisters with severe short stature, microcephaly, and developmental delay, whose parents were unaffected and appeared to be distantly related by whole-genome SNP genotyping, Dauber et al. (2012) performed whole-exome sequencing, followed by filtering that yielded 616 ...