Synonym(s): - Pyknodysostosis
Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: D058631
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CTSK	P43235	601105

- 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
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Mid-facial hypoplasia / short / small midface
- 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

- 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

- Anaemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Lordosis
- Nails anomalies
- Narrow rib cage / thorax
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory rhythm disorder
- Splenomegaly