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Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Isolated plagiocephaly

1 OMIM reference -
2 associated genes
11 signs/symptoms

Pycnodysostosis

Isolated plagiocephaly

CTSK	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
			TCF12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTSK	(0.63)	FGFR3

Citations in the biomedical literature:

Pycnodysostosis		Isolated plagiocephaly
	Synonym(s): - Pyknodysostosis		Synonym(s): - Non-syndromic unicoronal synostosis - Synostotic plagiocephaly

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D058631		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Frontal bossing / prominent forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface

Pycnodysostosis		Isolated plagiocephaly
	Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Brachycephaly / flat occiput - Clavicle absent / abnormal - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Dysplastic / thick / grooved fingernails - Epiphyseal anomaly - Face / facial anomalies - High forehead - High vaulted / narrow palate - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / small fingernails / anonychia of hands - Blue sclerae - Bone pain - Proptosis / exophthalmos - Tooth shape anomaly - Wormian bones Occasional - Anaemia - Anomalies of skin, subcutaneous tissue and mucosae - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - Kyphosis - Lordosis - Nails anomalies - Narrow rib cage / thorax - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory rhythm disorder - Splenomegaly		Very frequent - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Macrocephaly / macrocrania / megalocephaly / megacephaly