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13 Possible Causes for Failure to Thrive, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Dyggve-Melchior-Clausen Syndrome

    greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Platyspondyly

    Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs.[ispub.com] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Pelviscapular Dysplasia

    […] to thrive in infancy Chronic otitis media Tented upper lip vermilion Precocious puberty Hand polydactyly Hoarse voice Stereotypy Joint stiffness Hypertriglyceridemia Open[mendelian.co] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] to thrive Broad gyri of cerebrum Pearson syndrome Pearson's marrow-pancreas Trisomy 2 & 5 pseudomosaicism Brocq-Duhring disease Erythroderma lethal congenital Pachygyria[yumpu.com]

  • Distal Symphalangism

    […] to thrive Clinodactyly of the 5th finger Rare Symptoms - Less than 30% cases Small thenar eminence Short 4th metacarpal Astigmatism Limited elbow movement Short 1st metacarpal[mendelian.co] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co]

  • Metaphyseal Chondrodysplasia Type Kaitila

    […] to thrive SOURCES: OMIM UMLS SCTID ORPHANET More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A Top 5 symptoms//phenotypes associated to Motor delay[mendelian.co] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips] 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]

  • Rhizomelic Syndrome Type Urbach

    It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com] greater sacrosciatic notches Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Neurodevelopmental delay Disproportionate short[mendelian.co] short stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[en.wikipedia.org]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    […] to thrive congenital heart disease life expectancy XL alphagalactosidase A deficiency results in glycosphingoid accumulation vortex keratopathy cataracts (posterior cortical[quizlet.com] greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[mendelian.co] 650 live births blepharitis keratoconus cataracts muscoskeletal abnormalities congenital heart disease low IQ Trisomy 18 1:8,000 births microphthalmos glaucoma cataracts failure[quizlet.com]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    MULTIPLE OSTEOCHONDROMAS Is also known as bessel-hagen disease; multiple cartilaginous exostoses Related symptoms: Short stature Scoliosis Failure to thrive Muscle weakness[mendelian.co] 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] greater sacrosciatic notches Anterior rib cupping Hypoplastic pubic bone Delayed pubic bone ossification Pelvic bone exostoses Synostosis of joints Anteverted nares Hypoplasia[mendelian.co]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    Related symptoms: Growth delay Failure to thrive Muscular hypotonia Feeding difficulties Brachydactyly SOURCES: ORPHANET More info about INFANTILE SYSTEMIC HYALINOSIS Top[mendelian.co] greater sacrosciatic notches Inflammatory abnormality of the eye Adermatoglyphia Phimosis Partial albinism Bronchomalacia White forelock Atelectasis Blue irides Heterochromia[mendelian.co] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

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