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103 Possible Causes for Multiple Buccal Frenula, Short, Curved Ulna, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[humpath.com] ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] Mutations that cause Pallister–Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein.[en.wikipedia.org] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov]

    Missing: Curved Ulna
  • Craniosynostosis Type 3

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] , brachycephalism A disproportionately short head brach·y·ceph·a·ly ( brak'ē-sef'ă-lē ) Shortness or broadness of the head. [ brachy- G. kephalē, head] brach·y·ceph·a·ly ([medical-dictionary.thefreedictionary.com] The anterior cranial base is short in the anteroposterior dimension and wide transversely.[diacritech.com] This condition is also called brachycephaly due to the short anteroposterior diameter.[craniokids.co.za]

    Missing: Curved Ulna
  • Baller-Gerold Syndrome

    In addition to radial deficiency, absent/malformed thumbs, fused/absent carpal bones, absent metacarpals and phalanges, oligodactyly of the feet, and short, curved ulna can[doi.org] buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] initially classified as idiopathic short stature.[karger.com] Definition An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent[uniprot.org]

    Missing: Syndactyly between Adjacent Toes
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] Time is important- act now if your child is short.[practo.com] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] References: [1] [2] Causes of short stature Causes of short stature Pathophysiology Specific features Nonpathological Familial short stature Inheritance of parental short[amboss.com]

    Missing: Curved Ulna Syndactyly between Adjacent Toes
  • Mesomelic Dysplasia Type Langer

    Radiological studies indicated mesomelia, markedly curved radii, hypoplastic ulnas and fibulas, and metaphyseal splaying in the infant, and borderline to mild curvature of[ncbi.nlm.nih.gov] We present an 11-yr-old with combined TS and LMD with severe short stature and skeletal deformities.[ncbi.nlm.nih.gov] […] and fibula, thickened and curved radius and tibia.[en.wikipedia.org] […] femoral necks, disproportionate long fibula, short plump tibia and moderately short plump humerus.[karger.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Madelung Deformity

    Due to this, while the radius begins to curve, the ulna grows in a straight line. Eventually, the ulna remains long and the radius becomes short.[orthopedics.ygoy.com] Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO.[ncbi.nlm.nih.gov] […] of the distal ulna, partial limitation of supination and pain in the last 6 months, with and insidious onsed and aggravated lately.[ncbi.nlm.nih.gov] Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%-15% within the idiopathic short population.[ncbi.nlm.nih.gov]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Leri-Weill Dyschondrosteosis

    Radiological studies indicated mesomelia, markedly curved radii, hypoplastic ulnas and fibulas, and metaphyseal splaying in the infant, and borderline to mild curvature of[ncbi.nlm.nih.gov] Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders.[ncbi.nlm.nih.gov] That of the ulna has maintained its original normal position, while that of the radius has curved down to a volar level.[boneandspine.com] OBJECTIVE: The frequency of SHOX mutations in children with idiopathic short stature (ISS) has been found to be variable.[ncbi.nlm.nih.gov]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Brachydactyly

    The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has[ncbi.nlm.nih.gov] The most notable finding in this patient with brachydactyly is the short 5th metacarpal. The 4th metacarpal is also short.[congenitalhand.wustl.edu] […] of the pinkie finger 0004209 Distal symphalangism of hands Fused outermost bones of hand 0001204 Hypoplasia of the ulna Underdeveloped inner large forearm bone 0003022 Scoliosis[rarediseases.info.nih.gov] It consists of short fingers (brachy-), which can be linked together (syn-of syndactyly).[cirugiamanoinfantil.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Achondroplasia

    The sacro-coccyx was curved posteriorly with small square iliac wing and the horizontal acetabulum roof had champagne glass appearance.[bmcpediatr.biomedcentral.com] Growth hormone treatment seems to have only modest short term success and to lack long term benefits.[dx.doi.org] BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[ncbi.nlm.nih.gov] The neonate had bilateral short humeri, radii and ulnae with metaphyseal flaring, as well as a short tibia and fibula with metaphyseal flaring, mildly increased fibular length[bmcpediatr.biomedcentral.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Rothmund Thomson Syndrome

    In addition, the bone on the "pinky" side of the forearms (ulnae) is unusually short and curved and the thumbs may be underdeveloped or absent.[rarediseases.org] A case of short root anomaly in a patient with Rothmund-Thomson syndrome is reported.[ncbi.nlm.nih.gov] […] foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279 Short thumb Short thumbs Small thumbs [[rarediseases.info.nih.gov] She has a small flat face with short palpebral fissures and micrognathia together with severe skeletal abnormalities of the upper extremities with absence of both radii, short[ncbi.nlm.nih.gov]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes