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105 Possible Causes for Congenital Alopecia, Facial Hemiatrophy, Seizure

  • Tollner-Horst-Manzke Syndrome

    Abnormalities, Kyphoscoliosis, and Mental Retardation Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome facial[rgd.mcw.edu] alopecia Autosomal dominant partial epilepsy with auditory features Autosomal dominant polycystic kidney disease - Not a rare disease Autosomal dominant pseudohypoaldosteronism[rarediseases.info.nih.gov] Arima Syndrome Armfield syndrome Arnold Stickler Bourne Syndrome Arroyo Garcia Cimadevilla Syndrome arterial tortuosity syndrome Arthrogryposis, Mental Retardation, and Seizures[rgd.mcw.edu]

  • Cerebellotrigeminal Dermal Dysplasia

    hemiatrophy (Parry-Romberg syndrome) Linear scleroderma (morphoea) en coup de sabre Unilateral somatic and intracranial hypoplasia Oculocerebrocutaneous syndrome (Delleman[chipsbooks.com] alopecia of a zone of the occipital and posterior parietal scalp is presented.[ncbi.nlm.nih.gov] This female patient had also exhibited fever-induced convulsive seizures and psychomotor developmental delay since infancy.[ncbi.nlm.nih.gov]

  • Rasmussen Syndrome

    Parry-Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones.[ncbi.nlm.nih.gov] The absence seizures disappeared after OXC was discontinued.[ncbi.nlm.nih.gov] A 9-year-old boy diagnosed as having Rasmussen syndrome had congenital IgA deficiency and juvenile alopecia.[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

    hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Familial Antiphospholipid[rgd.mcw.edu] […] variant) FOXI1 (Enlarged vestibular aqueduct) FOXL2 (Blepharophimosis, epicanthus inversus, and ptosis, type 1) FOXN1 (T-cell immunodeficiency, congenital alopecia, and nail[en.praenatal-medizin.de] There are chapters on epileptic seizures that do not look like typical epileptic seizures, and conversely, apparent epileptic seizures that are not.[books.google.de]

  • Phakomatosis Pigmentokeratotica

    Pascual-Castroviejo Progressive facial hemiatrophy I. Pascual-Castroviejo Unilateral facial and intracranial hypoplasia[hoepli.it] Alopecia Syndrome Other Disorders of Keratinization Porokeratoses Kyrle’s Disease Pityriasis Rubra Pilaris Poikilodermas and Aging Syndromes Disorders of DNA Repair Aging[routledge.com] It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures[en.wikipedia.org]

  • Qazi-Markouizos Syndrome

    hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Familial Antiphospholipid[rgd.mcw.edu] alopecia and nail dystrophy Tabatznik syndrome Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals Talonavicular coalition Tangier disease TANGO2-Related[herenciageneticayenfermedad.blogspot.com] A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.[doi.org]

  • Infantile Choroidocerebral Calcification Syndrome

    Parry-Romberg Syndrome (Progressive facial hemiatrophy). ?From chronic vasomotor/ischaemia to sympathetic nervous system.[radnotes.co.nz] alopecia, X linked Congenital anosmia, isolated Congenital brain dysgenesis due to glutamine synthetase deficiency 2 7 Craniosynostosis - fibular aplasia Craniosynostosis[docplayer.net] Diseases related with Seizures and Cerebral calcification In the following list you will find some of the most common rare diseases related to Seizures and Cerebral calcification[mendelian.co]

  • Jankovic Rivera Syndrome

    hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Familial Antiphospholipid[rgd.mcw.edu] Seizure. 2004 Dec;13(8):582-6.[ghr.nlm.nih.gov] Diseases Pelizaeus Merzbacher disease, recessive, acute infantile Poikilodermia alopecia retrognathism cleft palate Congenital hepatic porphyria Congenital insensitivity to[nhha.org]

  • Salti-Salem Syndrome

    hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Familial Antiphospholipid[rgd.mcw.edu] Migrational Brain Disorder Arthrogryposis, Mental Retardation, and Seizures ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION[rgd.mcw.edu] Alopecia X-Linked Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism Cutaneous Telangiectasia and Cancer Syndrome, Familial De Sanctis-Cacchione Syndrome[rgd.mcw.edu]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    543 2 瘢痕回(ulegyria) 544 6 側頭脳瘤(temporal encephalocele) 545 7 Rasmussen脳炎(Rasmussen's encephalitis) 546 8 神経節膠腫(ganglioglioma) 549 9 Parry-Romberg症候群(進行性顔面片側萎縮症progressive facial[rnavi.ndl.go.jp] alopecia Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 4 Autosomal[sanfordresearch.org] RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY Is also known as ; Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Ataxia Motor delay SOURCES[mendelian.co]

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