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390 Possible Causes for Hypertelorism, Sparse Eyelashes

  • Mandibulofacial Dysostosis

    The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma.[ghr.nlm.nih.gov] Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital[icd9data.com]

  • Cerebro-Facio-Thoracic Dysplasia

    […] another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism[ncbi.nlm.nih.gov] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Supernumerary nipple Accessory nipple 0002558[rarediseases.info.nih.gov] Both affected individuals are members of the same family and have epicanthal folds and hypertelorism.[scinapse.io]

  • Rothmund Thomson Syndrome

    […] or absent hair, eyelashes, and eyebrows, forearm reduction defects, small hands with hypoplasia of the middle phalanx (little finger) in one of the probands, epicanthus, hypertelorism[ncbi.nlm.nih.gov] The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes[ncbi.nlm.nih.gov] Deep-set eyes Sunken eye [ more ] 0000490 Dry skin 0000958 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 External ear malformation 0008572 Frontal bossing 0002007 Hypertelorism[rarediseases.info.nih.gov]

  • Noonan Syndrome

    Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] […] eyebrows and eyelashes are prominent.[jiaomr.in] Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.com] Sparse eyebrows and eyelashes have been described in infants with the syndrome,5'7'8 however, the two adults who formed the basis of Pallister's original description had synophrys[healio.com] […] nervous system: Extreme hypotonia at birth Epileptic seizures Mental developmental delays Hearing loss, lack of speech development Issues related to the face and skull: Sparse[dovemed.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Noonan: Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.[whonamedit.com] […] hair Large fontanelles Osteolysis Joint stiffness Short foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes Triangular face Hypoplasia of teeth Failure[mendelian.co] The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing.[rasopathiesnet.org]

  • Pallister-Killian Syndrome

    We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios[ncbi.nlm.nih.gov] Sparse eyebrows and eyelashes have been described in infants with the syndrome,5'7'8 however, the two adults who formed the basis of Pallister's original description had synophrys[healio.com] The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures[ncbi.nlm.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Wynne et al .[ 4 ] have reported on three generations of one family with an autosomal dominant expression of gingival fibromatosis with associated hearing deficiencies, hypertelorism[ncbi.nlm.nih.gov] eyelashes Reduced tendon reflexes Smooth tongue Urticaria Increased number of teeth Neurofibromas Selective tooth agenesis Subcutaneous lipoma Chondrosarcoma Trichilemmal[mendelian.co] The proband and affected brother showing similar facial features with relative macrocephaly, bushy eyebrows with syn- ophrys, hypertelorism and downslanting palpebral fissures[documentslide.com]

  • Hypertelorism

    Because hypertelorism is often associated with syndromes like Apert, hypertelorism is often seen in combination with midface dysplasia.[en.wikipedia.org] eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies [18].[wikigenes.org] The hypertelorism resolved postoperatively. Nasal chondroma may also present innocuously as hypertelorism as in this case.[ncbi.nlm.nih.gov]

  • Axenfeld-Rieger Syndrome Type 3

    Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant[uniprot.org] eyelashes Esophoria Microtia X-linked recessive inheritance Downslanted palpebral fissures Anemia Cryptorchidism Metacarpal synostosis Underdeveloped supraorbital ridges[mendelian.co] Axenfeld-Rieger syndrome Symptoms of Axenfeld-Rieger syndrome type 3 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Concave nasal ridge Hypertelorism[familydiagnosis.com]

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