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607 Possible Causes for Brushfield Spot, Caused by Mutation in the Transcription Factor-12 Gene, Short Broad Feet

  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[clinicalgate.com] She had low set ears, broad hands, short fingers, and short broad feet [Figure 3] a-c. Figure 3: The features of Michels syndrome.[ijo.in] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[clinicalgate.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Craniosynostosis Type 3

    Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[patient.info] They have black to dark brown skin, broad short noses, wooly black hair, and dark irises. Adult males are less than 5 feet tall and females are shorter still.[internetlooks.com] Saethre–Chotzen syndrome : short or broad head. the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers may be abnormally short and webbed[en.wikipedia.org]

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[medterms.com] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[patient.info] […] folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse[icd9data.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Aarskog-Scott Syndrome

    Findings on the extremities include joint hyperextensibility, short and broad hands, interdigital webbing, a short fifth finger, clinodactyly and broad feet with bulbous toes[ncbi.nlm.nih.gov] Skeletal System Disproportionate short stature Broad, short hands and feet Short, stubby fingers (brachydactyly) Clinodactyly – Permanent fixation of the fifth fingers in[medcaretips.com]

    Missing: Brushfield Spot Caused by Mutation in the Transcription Factor-12 Gene
  • Zellweger Syndrome

    We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[ncbi.nlm.nih.gov] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[en.wikibooks.org] Eye abnormalities and vision problems like brushfield spots, abnormal retinal pigmentation, optic disk pallor, glaucoma and cataract occur as well.[ic.steadyhealth.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene Short Broad Feet
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[flashcardmachine.com] […] nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait spots, microcephaly, growth delay, speech delay[chr7.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Congenital Non-Neoplastic Nevus

    spots Q13.2 Iris freckles Q13.2 Blue sclera Q13.5 Exophthalmos Q15.8 Strabismus Q15.8 Top of Page Ear Ear Congenital anomaly ICD-10 ( 12 ) or RCPCH code ( 34 ) Accessory[cdc.gov] […] great toe Q66.8 Vertical talus Q66.8 Widely spaced first and second toes Q66.8 Recessed fourth and fifth toes Q66.8 Short fourth metatarsus Q66.8 Short or broad great toe[cdc.gov] […] palpebral fissures Q10.3 Short palpebral fissures Q10.3 Long eyelashes Q10.3 Weakness of eyelids Q10.3 Stenosis or stricture of lacrimal duct Q10.5 Coloboma of iris Q13.0 Brushfield[cdc.gov]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[merckmanuals.com] The pupils may have light smudgy opaque Brushfield spots.[hawaii.edu] The hands are typically short and broad and often have a single transverse palmar crease.[merckmanuals.com]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Monosomy 21q

    Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[publications.fondationlejeune.org] The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually[rarediseases.org] spots (iris color) - (darks) id - Nystagmus - id - - - Flat nasal bridge(a) id Mouth permanently open - - - ND - Abnormal teeth - Protruding tongue (macroglossia) - - ND[publications.fondationlejeune.org]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene
  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[diapedia.org] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[iofbonehealth.org] Will see epicanthal folds, simian crease, brushfield spots in eyes.[kumc.edu]

    Missing: Caused by Mutation in the Transcription Factor-12 Gene

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