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139 Possible Causes for 3rd-4th Toe Clinodactyly, Hypoplastic Distal Phalanx

  • Alagille Syndrome

    We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities. This diagnosis was later confirmed[…][ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Gorlin-Chaudhry-Moss Syndrome

    Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy. Gorlin-Chaudhry-Moss syndrome is characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which[…][ghr.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly
  • Odonto Tricho Ungual Digito Palmar Syndrome

    Their patients had mild cutaneous syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes. Some were mentally retarded.[vdocuments.site] […] ilia Nail pits Anemia Sparse and thin eyebrow Short distal phalanx of finger Talipes Small for gestational age Sparse hair Osteopenia Severe short stature Depressed nasal[mendelian.co] The fingers appeared long and tapering (Fig. 3) with mild clinodactyly of the left 3rd and 4th fingers and the right 2nd and 3rd fingers.[vdocuments.site]

  • Schmid Metaphyseal Chondrodysplasia

    Abstract Schmid metaphyseal chondrodysplasia (SMCD) is a dominantly inherited cartilage disorder caused by mutations in the gene for the hypertrophic cartilage extracellular matrix structural protein, collagen X (COL10A1). Thirty heterozygous mutations have been described, about equally divided into two mutation[…][ncbi.nlm.nih.gov]

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

    2nd, 3rd and 4th fingers.The feet revealed syndyctaly of the 2nd to 5th toes and clinodactyly of the great toes.[sajr.org.za] […] joint of 5 th fingers (clinodactyly), hypoplastic middle phalanx of 5 th finger (brachydactyly type A3), flexion deformity of metacarpophalangeal joint of thumbs and broadening[ijo.in] Hand and foot abnormalities in ODDD include syndactyly involving the 3rd, 4th and 5th fingers and 2nd to 4th toes, camptodactyly, and clinodactyly owing to hypoplasia or aplasia[sajr.org.za]

  • Craniodiaphyseal Dysplasia

    […] 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 may be radial deviation of the distal phalanx of the index fingers. The nails on the involved digits are hypoplastic in 80 %.[slideheaven.com] Syndactyly type 9 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd[amp.pharm.mssm.edu]

  • Isolated Congenital Sclerocornea

    phalanx of finger Nasolacrimal duct obstruction Portal hypertension Pheochromocytoma Neurofibromas Flared iliac wings Self-mutilation Dyslexia Short attention span Meningioma[mendelian.co] Obstructive sleep apnea Patellar dislocation Hypoplastic iliac wing Capillary hemangioma Shawl scrotum Squamous cell carcinoma Bilateral cryptorchidism Tibial bowing Recurrent[mendelian.co] Facial grimacing Short upper lip Bimanual synkinesia Abnormal cornea morphology Frontal upsweep of hair Phonophobia Avascular necrosis of the capital femoral epiphysis Broad distal[mendelian.co]

    Missing: 3rd-4th Toe Clinodactyly
  • Hereditary Hyperekplexia

    […] 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] Syndactyly type 9 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd[amp.pharm.mssm.edu]

    Missing: Hypoplastic Distal Phalanx
  • Brachydactyly Type A1
    Missing: 3rd-4th Toe Clinodactyly
  • Brachytelephalangic Chondrodysplasia Punctata

    PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). Historically, ARSE mutations have been identified in only 50% of male patients, and it was proposed that the remainder[…][ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly

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