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MCID: PYK001
MIFTS: 18
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Pyknoachondrogenesis
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Pyknoachondrogenesis:
Characteristics:Orphanet epidemiological data:58
pyknoachondrogenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth; HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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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
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Diseases related to Pyknoachondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Pyknoachondrogenesis:58 31 (show all 24)
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MalaCards organs/tissues related to Pyknoachondrogenesis:40
Bone
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Articles related to Pyknoachondrogenesis:
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Search
GEO
for disease gene expression data for Pyknoachondrogenesis.
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