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84 Possible Causes for Severely Disproportionate Short Stature, Thin Lips

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.[orpha.net] lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three[malacards.org] Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small[rarediseases.info.nih.gov]

  • Autosomal Dominant Mental Retardation Type 21

    lips.[content.sciendo.com] stature with disproportionately short trunk and skeletal dysplasia thickened skin ,organomegaly, hernias, excessive body hair, progressive joint stiffness Developmental delay[intechopen.com] Delayed speech and language development, Infantile muscular hypotonia, Malar flattening, Mandibular prognathia, Misalignment of teeth, Obesity, Poor fine motor coordination, Thin[genecards.org]

  • Geleophysic Dysplasia

    Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with[ncbi.nlm.nih.gov] The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum.[ncbi.nlm.nih.gov] On examination, he had severe disproportionate short stature with a height of 115 cm (-3.9 SDS) [ 10, 11 ], a markedly elevated sitting height/total height ratio (sitting[karger.com]

  • Growth Failure

    […] upper lip, short neck.[cyberleninka.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net] […] upper lip high-arched palate small, crowded teeth unusually high-pitched voice in early years café-au-lait (coffee-with-milk) birth marks dimples in the posterior shoulders[magicfoundation.org]

  • Progeria

    […] nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin[orpha.net] […] growth retardation, resulting in short stature, low weight and delayed anterior fontanel closure.[ncbi.nlm.nih.gov] The characteristic facies show protruding ears, beaked nose, thin lips with centrofacial cyanosis, prominent eyes, frontal and parietal bossing with pseudohydrocephaly, midface[ncbi.nlm.nih.gov]

  • Russell-Silver Syndrome

    The wide prominent forehead contrasts with the small, triangular face with a small pointed chin, a wide mouth with thin lips and down-turned corners, large eyes and bluish[orpha.net] Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org] […] vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Upper limb asymmetry Unequal size of arms 0100560 5%-29% of people have these symptoms Abnormal vagina[rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly[ncbi.nlm.nih.gov] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Kyphoscoliosis

    […] upper lip vermilion Abnormal brainstem MRI signal intensity Pointed chin Bifid uvula Broad nasal tip Highly arched eyebrow Thick vermilion border Downturned corners of mouth[mendelian.co] short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia[mendelian.co] […] teeth Megalocornea Eyelid coloboma Depressed nasal bridge Large earlobe Highly elevated creatine phosphokinase Concave nasal ridge Absent muscle fiber merosin High forehead Thin[mendelian.co]

  • Familial Short Stature

    lips and down‐slanted oral commissures) intellectual disability, upper limbs abnormalities and hypertrichosis.[intechopen.com] […] upper lip.[aafp.org] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • Helsmoortel-van der Aa Syndrome

    […] upper lip, and smooth philtrum.[uniprot.org] stature with disproportionately short trunk and skeletal dysplasia thickened skin ,organomegaly, hernias, excessive body hair, progressive joint stiffness Developmental delay[intechopen.com] lips.[nature.com]

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