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136 Possible Causes for Hypoplastic Distal Phalanx, Square Prognathic Jaw

  • Gorlin-Chaudhry-Moss Syndrome

    Craniofacial defects: Frontal bossing, square jaw, mandibular prognathism, maxillary retrusion, dolichocephaly.[]

  • Alagille Syndrome

    Abstract Mutations in the JAG1 gene and the NOTCH2 gene cause Alagille syndrome. At present, however, genetic testing of Alagille syndrome is not commonly applied in clinical settings because the currently available assays are technically and financially demanding, mainly because of the size of the genes. In the[…][]

    Missing: Square Prognathic Jaw
  • Schmid Metaphyseal Chondrodysplasia

    Abstract Schmid metaphyseal chondrodysplasia results from mutations in the collagen X (COL10A1) gene. With the exception of two cases, the known mutations are clustered in the C-terminal nonhelical (NC1) domain of the collagen X. In vitro and cell culture studies have shown that the NC1 mutations result in impaired[…][]

    Missing: Square Prognathic Jaw
  • Polymyalgia Rheumatica

    […] and duplicated thumbs suggested by abduction of affected digit absence of IP joint crease Classification Wassel Classification of Preaxial Polydactyly Type I Bifid distal[] phalanx Type II Duplicated distal phalanx Type III Bifid proximal phalanx Type IV Duplicated proximal phalanx (most common) Type V Bifid metacarpal Type VI Duplicated metacarpal[] Blackfan-Diamond anemia imperforate anus cleft palate tibial defects Associated conditions pollex abductus abnormal connection between EPL and FPL tendons, seen in approximately 20% of hypoplastic[]

    Missing: Square Prognathic Jaw
  • Qazi-Markouizos Syndrome

    An X-ray picture of the hand revealed absent distal phalanx of the right fifth finger and the hypoplastic distal phalanx of the left one (fig. 5).[] […] of the fifth fingers and toes, hypoplastic or absent distal phalanx of the fifth finger, and lax joints [ 1 ].[] In this syndrome, the most frequent findings include: mental retardation, coarse facial features, short stature, hirsutism, hypotonia, short fifth fingers, hypoplastic nails[]

    Missing: Square Prognathic Jaw
  • Polydactyly of a Biphalangeal Thumb

    […] to complete hypoplastic thumb May cause broadening of distal phalanx to triphalangeal thumb More common in males, most often unilateral, usually not familial Part of many[] […] dominant inheritance with reduced penetrance Preaxial polydactyly Preaxial polydactyly type I Complete or partial duplication of a normal biphalangeal thumb Varies from extra phalanx[]

    Missing: Square Prognathic Jaw
  • Bullous Dystrophy Type Macular

    Note long, narrow face, square, prognathic jaw, large ears, bushy eyebrows, and narrow chest.[] Craniofacial features included a long, narrow face, a prominent, straight nose, a square, prognathic jaw, large ears, deep sunken eyes, and bushy eyebrows (fig 2 ).[] Craniofacial features included a long, narrow, impassive face with a prognathic, square jaw, large ears (7.5 cm) with flattened upper pinnae, deep sunken eyes, convergent[]

    Missing: Hypoplastic Distal Phalanx
  • Odonto Tricho Ungual Digito Palmar Syndrome

    […] 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[] Abnormality of dental morphology Finger clinodactyly Oligodontia Dermal atrophy Conjunctivitis Inflammatory abnormality of the skin Abnormality of the nail Lumbar kyphosis Hypoplastic[]

    Missing: Square Prognathic Jaw
  • BOD Syndrome

    Differences: long thumbs and big toes, often with triphalangy, other fingers and toes short as the result of an absent or hypoplastic distal phalanx, bilateral ptosis, short[] […] fifth fingernail Hypoplastic toenails Long philtrum Microcephaly Short distal phalanx of toe Toenail dysplasia Wide nasal bridge Frequently present symptoms in 30-79% of[] phalanx of toe Short outermost bone of toe 0001857 Short stature Decreased body height Small stature [ more ] 0004322 Toenail dysplasia Abnormal toenail development 0100797[]

    Missing: Square Prognathic Jaw
  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    […] fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Short distal phalanx of the thumb Short outermost bone of the thumb 0009650 Short phalanx of hallux[] Hypoplastic phalanges of the hallux Short bone of big toe [ more ] 0010111 Percent of people who have these symptoms is not available through HPO Short thumb Short thumbs[] […] hypoplastic toenail Absent/small toenails Absent/underdeveloped toenails [ more ] 0010624 30%-79% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Hypoplastic[]

    Missing: Square Prognathic Jaw

Further symptoms