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136 Possible Causes for Severely Disproportionate Short Stature, Short Extremities

  • Pseudoachondroplasia

    He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock[hopkinsmedicine.org]

  • Anauxetic Dysplasia

    Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the[ncbi.nlm.nih.gov] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities.[checkorphan.org]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    The radiographic findings in achondroplasia are as follows: Shortening of tubular bones with a normal shaft caliber Short extremities and ribs-versus-trunk length (see the[emedicine.medscape.com] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

  • Osteogenesis Imperfecta

    Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

  • Hypochondroplasia

    Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov] Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short[ncbi.nlm.nih.gov] Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov]

  • Achondrogenesis Type 2

    short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities.[emedicine.medscape.com] External morphology revealed a relatively large head, short upper and lower extremities, short neck, and distended abdomen.[jpatholtm.org] Fig. 3 a Photograph of proband’s father (III: 1) showing disproportionate short stature and barrel-shaped chest. b, c Hand and feet radiographs are normal without brachydactyly[bmcmedgenet.biomedcentral.com]

  • Achondroplasia

    […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com] Achondroplasia is the most common condition associated with severe disproportionate short stature. 4 The diagnosis can usually be made on the basis of clinical characteristics[pediatrics.aappublications.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Achondrogenesis

    short neck, short and flared thorax, protuberant abdomen, and extremely short upper extremities.[emedicine.medscape.com] short Thorax – Short and flared thorax, bell-shaped cage, lung hypoplasia Abdomen – Protuberant Limbs – Extremely short (micromelia) Causes Type IA is an autosomal recessive[odlarmed.com] The neck is extremely short. There is lung hypoplasia and short and barrel-shaped thorax.[symptoma.com]

  • Cartilage Hair Hypoplasia

    Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics[littlepeopleuk.org] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Severely uncapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as essential cell growth regulator.[analesdepediatria.org]

  • Achondrogenesis Type 1B

    Diastrophic dysplasia is a more mild form characterized by short stature (very short extremities), protruding abdomens, and narrow chests.[nxgenmdx.com] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com] It is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward.[dict.eudic.net]

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