MCID: PYK001
MIFTS: 18

Pyknoachondrogenesis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pyknoachondrogenesis

MalaCards integrated aliases for Pyknoachondrogenesis:

Name: Pyknoachondrogenesis 56 52 58 71
Association of Skeletal Defects Resembling Achondrogenesis with Generalized Bone Sclerosis 52
Camera Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pyknoachondrogenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
pyknoachondrogenesis:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 265880
MESH via Orphanet 44 C536251
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 72 C1849523
Orphanet 58 ORPHA3003
MedGen 41 C1849523
UMLS 71 C1849523

Summaries for Pyknoachondrogenesis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3003 Definition A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Epidemiology The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Clinical description Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology Etiology remains unknown. Familial occurrence of affected sibs of both sexes points to an autosomal recessive pattern of inheritance but parental consanguinity has not been reported. Diagnostic methods Diagnosis is based on clinical findings and typical radiographic features. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. Differential diagnosis Achondrogenesis (see this term) is the main differential diagnosis. Antenatal diagnosis Prenatal diagnosis of pyknoachondrogenesis may be made by ultrasound . Prognosis Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. Visit the Orphanet disease page for more resources.

MalaCards based summary : Pyknoachondrogenesis, also known as association of skeletal defects resembling achondrogenesis with generalized bone sclerosis, is related to achondrogenesis. Affiliated tissues include bone, and related phenotypes are craniofacial hyperostosis and short thorax

More information from OMIM: 265880

Related Diseases for Pyknoachondrogenesis

Diseases related to Pyknoachondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis 10.3

Symptoms & Phenotypes for Pyknoachondrogenesis

Human phenotypes related to Pyknoachondrogenesis:

58 31 (showing 24, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
2 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
3 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
4 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
5 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
6 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
7 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
8 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
9 hypoplastic ischia 58 31 frequent (33%) Frequent (79-30%) HP:0003175
10 muscular edema 58 31 frequent (33%) Frequent (79-30%) HP:0100748
11 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
12 abnormality of the wing of the ilium 58 31 frequent (33%) Frequent (79-30%) HP:0011867
13 short long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003026
14 poorly ossified vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0100856
15 short ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000773
16 horizontal ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000888
17 abnormality of mouth shape 58 31 frequent (33%) Frequent (79-30%) HP:0011338
18 short iliac bones 58 31 frequent (33%) Frequent (79-30%) HP:0100866
19 sclerosis of skull base 58 31 frequent (33%) Frequent (79-30%) HP:0002694
20 increased head circumference 58 31 frequent (33%) Frequent (79-30%) HP:0040194
21 aplastic pubic bones 58 31 frequent (33%) Frequent (79-30%) HP:0008817
22 abnormal intramembranous ossification 58 31 frequent (33%) Frequent (79-30%) HP:0012790
23 unossified sacrum 58 31 frequent (33%) Frequent (79-30%) HP:0030290
24 increased bone mineral density 31 HP:0011001

Symptoms via clinical synopsis from OMIM:

56
Skel:
osteochondrodysplasia
pyknoachondrogenesis
severe bone sclerosis

Misc:
stillborn or neonatal lethal

Radiology:
increased bone density

Clinical features from OMIM:

265880

Drugs & Therapeutics for Pyknoachondrogenesis

Search Clinical Trials , NIH Clinical Center for Pyknoachondrogenesis

Genetic Tests for Pyknoachondrogenesis

Anatomical Context for Pyknoachondrogenesis

MalaCards organs/tissues related to Pyknoachondrogenesis:

40
Bone

Publications for Pyknoachondrogenesis

Articles related to Pyknoachondrogenesis:

(showing 2, show less)
# Title Authors PMID Year
1
Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? 61 56
3791681 1986
2
In utero diagnosis of achondrogenesis, type I. 56
7460382 1981

Variations for Pyknoachondrogenesis

Expression for Pyknoachondrogenesis

Search GEO for disease gene expression data for Pyknoachondrogenesis.

Pathways for Pyknoachondrogenesis

GO Terms for Pyknoachondrogenesis

Sources for Pyknoachondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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