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1,875 Possible Causes for 3rd-4th Toe Clinodactyly, Mild to Severe Mental Retardation, Small Scapula

Did you mean: 3rd-4th Toe Clinodactyly, Mild to, Severe Mental Retardation, Small Scapula

  • Schneckenbecken Dysplasia

    Small shoulder blade 0000882 Hypoplastic vertebral bodies Underdeveloped back bones 0008479 Increased fibular diameter Wide calf bone 0012107 Lateral clavicle hook Hook-shaped[rarediseases.info.nih.gov] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] […] short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Fibular hypoplasia Short calf bone 0003038 Hypoplastic ilia 0000946 Hypoplastic scapulae[rarediseases.info.nih.gov]

  • Acrorenal Mandibular Syndrome

    , and large calvarium with disproportionately small face.[sonoworld.com] Common findings include retarded psychomotor development, moderate to severe mental retardation, variable growth patterns which can result in either abnormally short or tall[diki.pl] Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated.[icd10data.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Ulnar Mammary Syndrome

    Fragile X syndrome extreme obesity (no hypotonia pws) a full, round face small, broad hands and feet regional skin hyperpigmentation severe mental retardation macro-orchidism[slideshare.net]

    Missing: 3rd-4th Toe Clinodactyly
  • Pelviscapular Dysplasia

    Hypoplastic scapulae (HP:0000882) Term ID: 882 Name: Hypoplastic scapulae Synonym: Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae;[mseqdr.org] Mental retardation, X-linked syndromic, Lubs type (MRXSL) (MECP2 duplication syndrome) Mental retardation, X-linked, syndromic 13 (MRXS13) Rett syndrome (RTT; RTS) Rett syndrome[uniklinik-freiburg.de] Small shoulder blade 0000882 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Mesomelic leg shortening 0004987 Short femur Short[rarediseases.info.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Glutamate Formiminotransferase Deficiency

    […] and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs (skin with an orange peel appearance on the scapula[pliem.co.za] […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] There are two forms of the disorder: a severe phenotype and a mild phenotype.[egl-eurofins.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.[ncbi.nlm.nih.gov] Small shoulder blade 0000882 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Ivory epiphyses[rarediseases.info.nih.gov] […] development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com]

    Missing: 3rd-4th Toe Clinodactyly
  • SAMS Syndrome

    A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…][ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly Mild to Severe Mental Retardation
  • Patterson Pseudoleprechaunism Syndrome

    CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by Matsushita et al.,[mendelian.co] The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental[doi.org] mental retardation, and major bony deformities.[the-medical-dictionary.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Kaufman Oculocerebrofacial Syndrome

    : [External features]; Chest asymmetry; [Ribs, sternum, clavicles, and scapulae]; Pectus carinatum; Lack of sternal ossification; Slender ribs; Flat or absent glenoid fossae[findzebra.com] Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.nih.gov] Abstract Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular[doi.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Prognosis is extremely poor, with severe mental retardation, spastic tetraplegia, and thermoregulatory instability ( , 42 ).[pubs.rsna.org] […] squared iliac wings may show trident acetabula Chest narrow chest short horizontal ribs small scapulae Skull and face relative macrocephaly frontal bossing proptosis nasal[radiopaedia.org] […] narrow thorax with horizontally placed ribs, small scapulae, severe platyspondyly (decreased height of vertebral bodies), horizontal acetabular roofs, small sacroiliac notches[jemds.com]

    Missing: 3rd-4th Toe Clinodactyly