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48 Possible Causes for Hypertrichosis of Eyebrows, Short Neck, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    She had the characteristic short fifth digits (Fig. 1), a short neck, thick lips, and macroglossia (Fig. 2 and 3). Airway assessment was Mallampati class 3.[journals.lww.com] 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] Radiography of lower limbs: short and wide femoral neck.[jped.com.br]

  • Rubinstein-Taybi Syndrome

    Examination showed a woman of short stature (120 cm, 45 kg). She had a pronounced kyphoscoliosis.[bja.oxfordjournals.org] transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Opitz-Kaveggia Syndrome

    It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[icd10data.com] Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] fullness, a wide mouth with full lips, and coarse facial features as well as fifth fingernail hypoplasia, absence of terminal phalanges, hypertrichosis, developmental delay[karger.com]

  • Hypertrichotic Osteochondrodysplasia

    The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[mendelian.co] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

  • Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

    , nystagmus • senile facies • white-blonde scalp hair • short neck • brachydactyly • normal intellect • Skeletal findings: delayed bone age, calvarial defects, cone-shaped[epostersonline.com] transverse palmar crease Syndactyly Cutis laxa Congenital eye abnormality Hypermetropia Myopia Optic atrophy Strabismus Micromelia • • • Back to: « Short stature, optic nerve[familydiagnosis.com] […] stature, ovarian dysgenesis/streak ovary, shield chest, wide-spaced nipples, bicuspid aortic valve, coarc, lymphatic defects webbed neck/cystic hygroma/lymphedema in hands[quizlet.com]

  • Wiedemann-Steiner Syndrome

    neck Falls Webbed neck Underdeveloped nasal alae Bilateral ptosis Small hand Mild short stature Thoracolumbar scoliosis Lumbar scoliosis Fused cervical vertebrae Acetabular[mendelian.co] transverse palmar crease Delayed eruption of teeth Spastic paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Verheij Syndrome

    Affiliated tissues include kidney , heart and bone , and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation[malacards.org] transverse palmar crease Highly arched eyebrow Depressed nasal ridge Hirsutism Wide intermamillary distance Dental crowding Tented upper lip vermilion Posteriorly rotated[mendelian.co] Visage in profile demonstrates absence of nasofrontal angle, eyebrow hypertrichosis, upturned nasal tip, and shortened upper lip with a pronounced cupid's bow.[emedicine.medscape.com]

  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    Affiliated tissues include bone and skin , and related phenotypes are short neck and nystagmus OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized[malacards.org] transverse palmar crease Highly arched eyebrow Poor speech Wide intermamillary distance Prominent nose Broad hallux Lacrimal duct aplasia Need help with a diagnosis?[mendelian.co] […] femoral neck Short neck of thighbone 0100864 Short neck Decreased length of neck 0000470 Small epiphyses Small end part of bone 0010585 Spondyloepimetaphyseal dysplasia 0002651[rarediseases.info.nih.gov]

  • Thanatophoric Dysplasia

    Note short-limbed dysplasia, large head, short neck, narrow thorax, short and small fingers, and bowed extremities.[emedicine.com] transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co] It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen.[jlponline.org]

  • Ring Chromosome 9

    neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.[ncbi.nlm.nih.gov] transverse palmar crease Shares features of another case with duplication of 22q11.1 to q13 [ edit ] Absence of speech Persistent self-injury Lack of daily living skills[en.wikibooks.org] eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.[ncbi.nlm.nih.gov]

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