She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. [ncbi.nlm.nih.gov]

J Clin Endocrinol Metab 81:2142–2148 CrossRef PubMed CAS Google Scholar Moore CA, Curry CJ, Henthorn PS et al (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. [link.springer.com]

Indicaciones El panel de precisión de displasia esquelética de Igenomix está indicado para aquellos pacientes con un diagnóstico clínico sospechado de displasia esquelética que presente las siguientes manifestaciones: Antecedentes familiares de displasia [igenomix.es]

• Developmental Delay

  Other symptoms can include: stubby fingers duplication of fingers or toes club feet missing limbs missing ribs fractured bones joint pain scoliosis developmental delays cognitive impairments (previously known as mental retardation) Skeletal dysplasia [healthline.com]

  delays such as late walking Mental retardation Physicians can often detect skeletal dysplasia at birth because of its distinctive symptoms. [childrensnational.org]

  Plagiocephaly, Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Saethre-Chotzen Syndrome, Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome, Testicular Tumor, Thanatophoric Dysplasia Type 1 And 2 AD,AR 99.89% 77 of 78 FLNA [igenomix.es]

• Dysostosis

  100% 77 of 79 SEC23A Craniolenticulosutural Dysplasia AR 100% 4 of 4 SEC24D Cole-Carpenter Syndrome AR 99.97% 14 of 14 SEMA3A Brugada Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome AD 100% 29 of 29 SF3B4 Acrofacial Dysostosis [igenomix.es]

• Fracture

  Other symptoms can include: stubby fingers duplication of fingers or toes club feet missing limbs missing ribs fractured bones joint pain scoliosis developmental delays cognitive impairments (previously known as mental retardation) Skeletal dysplasia [healthline.com]

  […] metaphyses of long bones, especially at the knee. 1 3 4 6 8 10 11 They increase in size and number until the attainment of skeletal maturation and gradually fill with advancing age causing abnormal modeling and expansion of metaphyses. 3 4 8 Rarely, fractures [ncbi.nlm.nih.gov]

  Disease, Multiple Epiphyseal Dysplasia Beighton Type, Osteoarthritis With Mild Chondrodysplasia, Platyspondylic Dysplasia Torrance Type, Spondyloepimetaphyseal Dysplasia Congenita Strudwick Type, Stanescu Type, Spondylometaphyseal Dysplasia ‘Corner Fracture [igenomix.es]

• Joint Stiffness

  Skeletal dysplasia describes a category of rare genetic disorders that affect bones and joints and hinder children’s growth and development. [childrensnational.org]

• Normal Stature

  Most of the time, parents of children born with achondroplasia have normal height and stature. [healthline.com]

Your child’s doctor may work with a team of specialists to develop and deliver a treatment plan. [healthline.com]

Rare Disease Institute Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. [childrensnational.org]

This review discusses the treatment of the spinal deformities associated with the different skeletal dysplasias. [sogacot.org]

[…] obesity Surgical options include: Inserting draining tubes in the middle ear to prevent hearing loss caused by chronic ear infection Improving breathing by tracheotomy or removing tonsils or adenoids Widening the spinal canal to relieve pressure on the [childrensnational.org]

These mutations can prevent your child’s bones from growing normally. While skeletal dysplasia runs in families, you can potentially pass the condition to your child even if you don’t have a known family history of it. [healthline.com]