[Rickets-like genetic diseases].

[achondroplasia]

This paper summarizes the clinical features , causative genes and treatment progress of patients with rickets -like genetic diseases , including X-linked hypophosphatemic rickets (XLH ), hypophosphatasia , achondroplasia , vitamin D-dependent rickets , pycnodysostosis and ectodermal dysplasia , who visited the pediatric or child health clinic due to the symptoms of rickets , including bow legs , delayed closure of the anterior fontanelle , and sparse hair . Children with XLH usually go to hospital for bow legs and short stature , and biochemical evaluation reveals significantly low serum phosphorus so it is easily diagnosed . This disease is treated using phosphate mixture and 1 ,25 (OH )2 D 3 , which is different from the treatment of nutritional vitamin D deficiency rickets . Hypophosphatasia is characterized by a significant decrease in serum alkaline phosphatase , as well as normal serum calcium and phosphorus . The disease is caused by mutations in TNSALP gene . Patients with achondroplasia show short-limbed dwarfism and special face in addition to bow legs , but with normal serum calcium , phosphorus and alkaline phosphatase . Bone X-ray and FGFR 3 gene test contribute to the diagnosis . Vitamin D-dependent rickets is an autosomal recessive disease , and active vitamin D supplement is effective in treatment of the disease . Patients with pycnodysostosis may be first seen at hospital because of large anterior fontanelle ; in addition , they also show obtuse mandibular angle , dental abnormalities and dysplastic nails , which are caused by mutations in TSK gene . Children with ectodermal dysplasia may see a doctor for sparse hair , and they are easily misdiagnosed with nutritional vitamin D deficiency rickets . Ectodermal dysplasia is related to EDA , EDAR , EDARADD and WNT 10 A genes .

Diseases
Validation

Diseases presenting "special face in addition to bow legs" symptom

achondroplasia

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