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496 Possible Causes for Flat Facial Profile, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • Down Syndrome

    How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Ring Chromosome 10

    Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases[malacards.org]

    Missing: Flat Facial Profile
  • Atelosteogenesis Type 2

    transverse palmar creases.[documents.tips] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com]

  • Seckel Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

    Missing: Flat Facial Profile
  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial[ncbi.nlm.nih.gov] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Wide Space Between the First and Second Toe
  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] Clinical features of Robinow syndrome are the following: Craniofacial: Frontal bossing, flat facial profile with large head, midfacial hypoplasia, hypertelorism, wide palpebral[vivavoceoralmedicineradiology.com]

    Missing: Wide Space Between the First and Second Toe
  • Pallister-Killian Syndrome

    Craniofacial manifestations include a coarse'' face with flat profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital[orpha.net] Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net]

    Missing: Wide Space Between the First and Second Toe
  • Mental Retardation

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction[aafp.org] […] cases may be inherited from a balanced translocation carrier parent Hypotonia; flat facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single[aafp.org]

    Missing: Wide Space Between the First and Second Toe
  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Most have a flat facial profile (particularly flattening of the bridge of the nose), but some do not have obviously unusual physical characteristics at birth and then develop[merckmanuals.com] transverse palmar crease Highly arched eyebrow Hirsutism Poor speech Wide intermamillary distance Gait ataxia Areflexia Broad hallux Broad forehead Tics Intellectual disability[mendelian.co] He appears jaundiced; he has a flat facial profile; epicanthal folds and upslanting palpebral fissures, flat nasal bridge, small mouth with protruding tongue, small, cupped[hawaii.edu]

    Missing: Wide Space Between the First and Second Toe
  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net] […] planus Flat feet Flat foot [ more ] 0001763 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Single[rarediseases.info.nih.gov]

    Missing: Flat Facial Profile Wide Space Between the First and Second Toe