IllnessCartilage-hair hypoplasia / anauxetic dysplasia spectrum, differential diagnosis

NGS +

Cartilage-hair hypoplasia/anauxetic dysplasia is a disorder characterized by disproportionate short stature and other skeletal abnormalities, hypermobility, dental problems and pronounced facial features. Mild mental retardation may occur as well as atlantoaxial subluxation, possibly along with neurologic symptoms, in the most severe cases, paralysis of the respiratory muscles. Other skeletal abnormalities include a barrel-shaped rib cage, kyphoscoliosis, hyperlordosis and rocker-bottom feet. Other findings may include fine, silky hair, immunodeficiency, anemia, increased risks for malignancies, gastrointestinal dysfunction and impaired spermatogenesis. Anauxetic dysplasia 1 is caused by mutations in the RMRP gene, which is the template for a non-coding RNA that binds an enzyme complex, the RNA-processing endoribonuclease RNase MRP. Mutations in the gene that provides instructions for making a protein component of the RNase-MRP enzyme complex can cause anauxetic dysplasia 2. Both disorders, types 1 and 2, are inherited in an autosomal recessive manner. The molecular genetic yield in anauxetic dysplasia is not precisely known; therefore, negative DNA test results do not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK84550/

• Alias: Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
• Alias: Knorpel-Haar-Hypoplasie
• Alias: Metaphysäre Dysplasie ohne Hypotrichose
• Alias: Spondyloepimetaphyseal dysplasia, Menger type (RMRP)
• Alias: Spondyloepimetaphyseal dysplasia, anauxetic type
• Allelic: Adenosine deaminase deficiency, partial (ADA)
• Allelic: Aplastic anemia, susceptibility to (SBDS)
• Allelic: Failure of tooth eruption, primary (PTH1R)
• Allelic: Neutropenia, severe congenital, XL (WAS)
• Allelic: Thrombocytopenia, XL (WAS)
• Allelic: Thrombocytopenia, XL, intermittent (WAS)
• Anauxetic dysplasia 1 (RMRP)
• Anauxetic dysplasia 2 (POP1)
• Anauxetic dysplasia 3 (NEPRO)
• Aplastic anemia, susceptibility to (SBDS)
• Bone marrow failure syndrome 3 (DNAJC21)
• Cartilage-hair hypoplasia (RMRP)
• Chondrodysplasia, Blomstrand type (PTH1R)
• Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
• Combined immunodeficiency, XL, moderate (IL2RG)
• Dursun syndrome (G6PC3)
• Eiken syndrome (PTH1R)
• Immunodeficiency 23 (PGM3)
• Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3)
• Lowry-Wood syndrome (RNU4ATAC)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Metaphyseal chondrodysplasia, Schmid type (COL10A1)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Neutropenia, cyclic (ELANE)
• Neutropenia, nonimmune chronic idiopathic, of adults (GFI1)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 2, AD (GFI1)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital 4, AR (G6PC3)
• Neutropenia, severe congenital, 8, AD (SRP54)
• Omenn syndrome (DCLRE1C, RAG1, RAG2)
• Roifman syndrome (RNU4ATAC)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Severe combined immunodeficiency due to ADA deficiency (ADA)
• Severe combined immunodeficiency, Athabascan type (DCLRE1C)
• Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
• Severe combined immunodeficiency, XL (IL2RG)
• Shwachman-Diamond syndrome (SBDS)
• Shwachman-Diamond syndrome 1 (SBDS)
• Shwachman-Diamond syndrome 2 (EFL1)
• Sneddon syndrome (ADA2)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (ADA2)
• Wiskott-Aldrich syndrome (WAS)
• a/b T-cell lymphopenia with g/d T-cell expansion, severe cytomegalovirus infection, autoimm. (RAG1)