Create issue ticket

168 Possible Causes for short, Single Transverse Palmar Crease, Upturned Nose

  • 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] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[whonamedit.com] Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome.[ghr.nlm.nih.gov]

  • Pallister-Killian Syndrome

    Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org] Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com]

  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] […] congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short[ncbi.nlm.nih.gov] These include, but are not limited to, peroxisome biogenesis factor 13 (short arm of chromosome 2 at 2p15), peroxisome biogenesis factor 6 (short arm of chromosome 6 at 6p21[encyclopedia.com]

  • Miller Dieker Syndrome

    The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17.[ncbi.nlm.nih.gov] nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.[ghr.nlm.nih.gov] This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.[ncbi.nlm.nih.gov]

  • 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] This short history describes the original case and the sequence of events leading to the publications.[ncbi.nlm.nih.gov] nostrils Vertical ridging of central forehead when crying Cat-eye syndrome Type of abnormality: trisomy or tetrasomy of 22q (could be mosaic) Critical Region: 22q11 Coloboma[alpfmedical.info]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    transverse palmar crease Highly arched eyebrow Hirsutism Poor speech Wide intermamillary distance Gait ataxia Areflexia Broad hallux Broad forehead Tics Intellectual disability[mendelian.co] MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[malacards.org] Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth[mitchmedical.us]

  • 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] Affected children have bone abnormalities like short fingers and toes.[symptoma.com] Growth retardation, marked hair on body, torticollis, upturned nose, flat nasal bridge with broad nasal root, deep creases on the feet.[vivavoceoralmedicineradiology.com]

  • Schinzel-Giedion Syndrome

    transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ][rarediseases.info.nih.gov] […] nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic[humpath.com] A clinical diagnosis may be made by identifying the facial phenotype, including prominent forehead, midface retraction, and short, upturned nose, plus one of either of the[ncbi.nlm.nih.gov]

  • Cranioectodermal Dysplasia

    Here we report on a patient from a consanguineous family presenting with renal cysts, short stature, distinctive facial features, missing teeth, brachydactyly, narrow chest[ncbi.nlm.nih.gov] Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge[ncbi.nlm.nih.gov] Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.[ncbi.nlm.nih.gov]

Similar symptoms