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490 Possible Causes for Alopecia, Retrognathia, Short Neck

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] Hypoplastic breast Ankyloblepharon Geniturinary defects Hypohydrosis Lacrimal duct obstruction Skin erosion Alopecia Holoprosencephaly Table 1 Comparative fndings between[redalyc.org] […] physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short[redalyc.org]

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] An association with many autoimmune diseases is described as well as skin diseases such as psoriasis, vitiligo and alopecia areata.[ncbi.nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    Micromelia Narrow chest Arrhythmia Finger syndactyly Short finger Abnormality of the metaphysis Gingival overgrowth Ptosis Failure to thrive X-linked recessive inheritance Retrognathia[mendelian.co] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] - photophobia syndrome 40 Cases 79503 Ichthyosis hystrix of Curth- Macklin 6 Families 88621 Ichthyosis prematurity syndrome 16 Families 2269 Ichthyosis-alopecia-eclabion-[azkurs.org]

  • Weaver Syndrome

    Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability[monarchinitiative.org] The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and[ncbi.nlm.nih.gov] Cranial abnormalities, such as macrocephaly, and several characteristic features of the face (retrognathia, a broad forehead, round facies, large ears, and very wide eyes)[symptoma.com]

  • Dubowitz Syndrome

    […] microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia[ncbi.nlm.nih.gov] The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[checkrare.com]

  • Polycystic Ovary Syndrome

    […] in infancy (quadricephaly with protruding forehead, flat nasal bridge, low set ears with attached earlobes, small mouth, high arched palate with submucous palatal cleft, retrognathia[ncbi.nlm.nih.gov] […] baldness or thinning hair Patches of skin on the neck, arms, breasts, or thighs that are thick and dark brown or black Skin tags — excess flaps of skin in the armpits or neck[web.archive.org] Logistic regression analysis showed that there were significant associations between sexual function score and the literacy, alopecia, and infertility.[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    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] Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss.[ncbi.nlm.nih.gov]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Rapp-Hodgkin Syndrome Rosselli-Gulienetti Syndrome Rothmund-Thomson Syndrome[nfed.org] , and a short neck.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] […] retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia[centogene.com]

  • Baraitser-Winter Syndrome 1

    There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] […] retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia[centogene.com]

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