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12 Possible Causes for Narrow Greater Sacrosciatic Notch, 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] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe syndrome has been described in three[malacards.org]

  • Platyspondyly

    […] vermilion border Protrusio acetabuli Weak voice Hypoplasia of the maxilla Percussion myotonia Hypermetropia Testicular torsion Cleft lip Bulbous nose Slender finger Abnormal[mendelian.co] 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]

  • Distal Symphalangism

    lips Pectus excavatum (funnel chest) Other skull abnormality Movement disorder - dystonia/chorea/tremor/spasm Long philtrum Bell-shaped chest Hyperostotic/wide clavicle EEG[head-face-med.biomedcentral.com] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[mendelian.co] Ptosis Motor delay Sensorineural hearing impairment Micrognathia Behavioral abnormality Thrombocytopenia Hearing impairment Gastroesophageal reflux Retinopathy Protruding ear Thin[mendelian.co]

  • Pelviscapular Dysplasia

    The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. [ read more ] 22265015 SRY A 45,X chromosomal aberration[nectarmutation.org] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] upper lip vermilion Flared metaphysis Thin vermilion border Eczema Metaphyseal irregularity Flat face Tapered finger Asthma High forehead Cervical cord compression Type I[mendelian.co] 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]

  • Rhizomelic Syndrome Type Urbach

    Characteristics may include Heart defects Intellectual disabilities Low-platelets Facial/skeletal Wide-set eyes caused by trigonocephaly Folding of the skin near the eye Thin[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]

  • Metaphyseal Chondrodysplasia Type Kaitila

    […] upper lip vermilion X-linked recessive inheritance Congenital onset Dystonia Short neck Hoarse voice Cerebral calcification Unexplained fevers Diaphyseal dysplasia Premature[mendelian.co] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[mendelian.co] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    […] upper lip vermilion Protruding ear Abnormal facial shape Mandibular prognathia Thick eyebrow Scoliosis Ptosis Feeding difficulties Downturned corners of mouth Low-set ears[mendelian.co] greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[mendelian.co] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co]

  • Odonto Tricho Ungual Digito Palmar Syndrome

    Proposita at age 8 with (a) blepharophimosis and thin lips (b) posteriorly angulated ear Fig. 2.[vdocuments.site] 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]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    lips and down‐slanted oral commissures) intellectual disability, upper limbs abnormalities and hypertrichosis.[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] […] superior lip, microcephaly), and broad thumb with radial angulation, broad hallux, syndactyly, eating difficulties and respiratory disorders in infancy.[intechopen.com]