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113 Possible Causes for Sloping Shoulders, Thumb Hypoplasia

  • Cleidocranial Dysplasia

    The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the[jamanetwork.com] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] & great toes Absence/hypoplasia of thumbs, halluces & distal phalanges Gracile bones Brain malformations CDAGS syndrome (OMIM 603116 ) Unknown AR Craniosynostosis, delayed[ncbi.nlm.nih.gov]

  • Holt Oram Syndrome

    Radial longitudinal deficiency and thumb hypoplasia were classified according to the modified Bayne and Klug classification and Blauth classifications, respectively, when[ncbi.nlm.nih.gov] shoulders, and intermediate atrioventricular canal defect (AVCD) with aortic coarctation.[ncbi.nlm.nih.gov] [thumb aplasia] (35% - see photo 1st below), underdeveloped [thumb hypoplasia], but the anomaly may also manifest as a nonopposable, triphalangeal finger-like digit [first-web[handresearch.com]

  • Syndactyly

    Thumb Hypoplasia Classification These tables and images were adapted from a 2004 paper addressing radial ray digit defects and thumb hypoplasias.[peds.ufl.edu] She had dolichocephaly, bilateral blepharoptosis, highly arched eyebrows, and sloping shoulders. Broad, prominent nasal bridge was observed. The philtrum was broad.[tiptiktak.com] Congenital Hand Defects Cleft Hand Macrodactyly Radial Club Hand Syndactyly Thumb Duplication Thumb Hypoplasia Toe to Hand Transfer Short QA What is syndactyly?[sparshhospital.com]

  • Acrootoocular Syndrome

    Saudi Medical Journal 26(7): 1161; Author Reply 1161-2, 2005 Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.[eurekamag.com] shoulders, and nipple anomalies Typical CHARGE syndrome 4 Major criteria or 3 Major 3 Minor Probable/possible CHARGE syndrome One or two major several minor features The[entokey.com] Limb malformations are seen in 40–50% which include radial anomalies, including thumb aplasia/hypoplasia, polydactyly and lower limb anomalies.[academic.oup.com]

  • Frontonasal Dysplasia

    Characteristics of Treacher Collins and Nager syndromes include: Hypoplasia of the cheek bones Retrusive lower jaw and chin Downward slanting of the eyes Lower eyelid and[facesplus.com] shoulder, widely and asymmetrically placed nipple Click here to view Figure 1b: Shoulders were rounded and sloping and could be proximated anteriorly close to the midline[mjdrdypu.org] shoulders, umbilical hernia 4021 r,l a ACC Mild (Delta phalanx digit one right hand) lf(2,3) Left eye only r,l Mild pectus excavatum, duplication of distal phalanx r thumb[doi.org]

  • Congenital Upper Palpebral Retraction

    Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet. 1984;17:753–62. PubMed CrossRef Google Scholar 37.[link.springer.com] Sloping narrow shoulders, hypoplasia of the radius and radio-ulnar synostosis have been noted in some cases.[oandplibrary.org] Radial defects comprising hypoplasia or absence of the thumb, first metacarpal and radius are the most common skeletal malformations (Glanz and Fraser, 1982).[oandplibrary.org]

  • Hamamy Syndrome

    […] nerve hypoplasia Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyostotic fibrous dysplasia Polysyndactyly Popliteal pterygium syndrome[se-atlas.de] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org]

  • Ruijs Aalfs Syndrome

    OMIM ID Human Disease OMIM:312190 Radial Aplasia, X-Linked OMIM:179200 Radial Heads, Posterior Dislocation of OMIM:179250 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias[informatics.jax.org] Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • Microphthalmia Type Lenz

    These include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Limbs.[ncbi.nlm.nih.gov] Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated[ncbi.nlm.nih.gov] Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter.[ncbi.nlm.nih.gov]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    […] hepatic ductular Hypoplasia of the tibia with polydactyly Hypoplastic left heart syndrome Hypoplastic right heart microcephaly Hypoplastic thumb mullerian aplasia Hypoplastic[thefullwiki.org] Micrognathia and sloping shoulders may mimic atypical progeroid phenotype.[medcraveonline.com] , triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Neutral lipid[checkrare.com]

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