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6,244 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Low-Set, Malformed Ears

  • Patau Syndrome

    Nose: absent, malformed or proboscis (prominent). Ears: malformed ears. Eye: structural eye defects (microphthalmia, iris coloboma or even absence of the eyes).[wikilectures.eu] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[icd9data.com] ears or dysplastic type of ears Abnormal testes or they are undescended Causes of Patau Syndrome It is caused due to the trisomy of chromosome 13.[wikiexclusive.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Turner Syndrome

    Hearing and ear problems : Malformation of the ears and middle ear infections that can result in conductive hearing loss are more common in girls with Turner syndrome.[my.clevelandclinic.org] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[nichd.nih.gov] Depressivity Depression 0000716 Ectopic kidney Abnormal kidney location Displaced kidney [ more ] 0000086 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 External ear[rarediseases.info.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Branchio-Oculo-Facial Syndrome

    We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and[ncbi.nlm.nih.gov] We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated[ncbi.nlm.nih.gov] malformations, affecting particularly the vestibular aqueduct in the inner ear and the malleus and incus in the middle ear (Carter et al., 2012).[docksci.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    Short stature Small head size (Microcephaly) Abnormality of the nose - beak like appearance Identifiable facial features e.g. malformed ears, small jaw (mircrognathia) and[littlepeopleuk.org] ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] […] the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set[ncbi.nlm.nih.gov]

  • Trisomy 18

    […] ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.[ncbi.nlm.nih.gov] […] defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set[ncbi.nlm.nih.gov] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Miller Dieker Syndrome

    The phenotype was later expanded to include brachycephaly, midfacial hypoplasia, broad nasal bridge, highly arched palate, mandibular prognathism, malformed ears, short hands[icd9data.com] They have low set ears, severe vision problems , a high forehead and a small mouth with a wide upper lip.[nethealthbook.com] The ears were low set. Retromicrognathia, and microphthalmia, more marked on the left, were also present.[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Microtia

    malformation of ear ossicles Q16.4 Other congenital malformations of middle ear Q16.5 Congenital malformation of inner ear Q16.9 Congenital malformation of ear causing impairment[icd10data.com] But to some low-set remnant ears, it is difficult to manipulate the conventional lobule transposition method in clinical application.[ncbi.nlm.nih.gov] Anotia means absence of ear Most severe form of microtia Low-set hairline very common Ear smaller than normal Many normal features preserved Can occur with or without an ear[microtia.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • CHARGE Syndrome

    Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association Charge Association--Coloboma, Heart[wikidata.org] These may include: a square-shaped face facial asymmetry, a difference in the appearance between the right and left sides of the face low-set and abnormal appearing ears antimongoloid[symptoma.com] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[gosh.nhs.uk]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Pelviscapular Dysplasia

    ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline.[orpha.net] […] globes, strabismus, low-set posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low hairline, and mild[newmedicalterms.com] […] shaped ears Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Blepharophimosis Narrow opening between the eyelids 0000581 Deeply set eye Deep[rarediseases.info.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    , choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly[icd9data.com] Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.[medical-dictionary.thefreedictionary.com] At birth the face was noted to be triangular with a pointed chin and there were low set, posteriorly rotated ears, a depressed nasal bridge, and an upturned nose.[jmg.bmj.com]

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