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593 Possible Causes for Hypertrichosis of Eyebrows, Large Soft Hands, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    […] mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.[ncbi.nlm.nih.gov] 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]

  • Rubinstein-Taybi Syndrome

    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] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov]

    Missing: Large Soft Hands
  • Zellweger Syndrome

    Most children have some degree of facial characteristics such as a broad nasal bridge, low set ears, a large fontanelle (soft spot) and a high forehead (which in our humble[zellweger.org.uk] 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] […] they also usually have shortened limbs to some degree and small hands and feet.[zellweger.org.uk]

    Missing: Hypertrichosis of Eyebrows
  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    soft hands, hypotonia, joint hyperextensibility, skeletal changes RSK2, Xp22 Creatine transporter deficiency Nondysmorphic, autistic, possibly progressive SLC6A8, Xq28 Duchenne[factpub.org] Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[ncbi.nlm.nih.gov] […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Global developmental delay Abnormal facial shape Delayed speech and language development Thick eyebrow[mendelian.co]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    Hair was longer and dark brown to black and soft and fine, increased facial height, relatively large head with short neck, increased intercanthal distance, and bushy, concrescent[jisppd.com] transverse palmar crease Abnormal heart morphology Pain Generalized hypertrichosis Epicanthus Generalized hirsutism Low anterior hairline Delayed eruption of teeth Cognitive[mendelian.co] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

  • Coffin-Siris Syndrome 2

    […] open mouth, thick everted lower lip, prominent low set ears, long Philtrum, high palate, hypodentia, widespaced teeth, micrognathia, large soft hands with tapering fingers[alliedacademies.org] transverse palmar creases 0007598 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cleft palate Cleft roof of mouth 0000175 Congenital diaphragmatic[rarediseases.info.nih.gov] Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.[ncbi.nlm.nih.gov]

  • Coffin-Siris Syndrome
    Missing: Large Soft Hands
  • Thanatophoric Dysplasia

    (b) Thickened soft tissues with redundancy of the skin of extremities, (c) very short hands with sausage-like fingers.[jscisociety.com] transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co] […] head with frontal bossing [Figure 4] a, thickened soft tissues with redundancy of the skin of extremities [Figure 4] b, short hands [Figure 4] c, small lungs with relatively[jscisociety.com]

  • Wiedemann-Steiner Syndrome

    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] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Large Soft Hands
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] […] brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single[dx.doi.org]

    Missing: Hypertrichosis of Eyebrows Large Soft Hands