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75 Possible Causes for Congenital Alopecia, Facial Hemiatrophy, Myotonic Dystrophy

  • 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] hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Fallot Complex with Severe[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] Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. ‎[books.google.es]

  • Salti-Salem Syndrome

    hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder Failed Back Surgery Syndrome Familial Antiphospholipid[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] dystrophy syndrome C0027126 OMIM7152HP:0012722 HP:0011705 First degree atrioventricular block2 DMPK 1760 273 Wrinkly skin syndrome C0406587 ORPHA7152HP:0012722 HP:0011705[mseqdr.org]

  • Chudley-Rozdilsky Syndrome

    Abnormalities, Kyphoscoliosis, and Mental Retardation Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome facial[rgd.mcw.edu] […] absence of the sternocleidomastoid muscle Congenital adrenal hyperplasia Congenital alopecia X-linked Congenital amegakaryocytic thrombocytopenia Congenital amputation Congenital[personalizedcause.com] Dystrophy using PhenoStacks. 31221094 New STAT3-FOXL2 pathway and its function in cancer cells. 31220047 Otitis Media-associated Bacterial Meningitis in Children in a Low-income[ncbi.life]

  • 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] A 9-year-old boy diagnosed as having Rasmussen syndrome had congenital IgA deficiency and juvenile alopecia.[ncbi.nlm.nih.gov] , Limb-girdle type 肢体型筋ジストロフィー 1 HPS0200* Muscular dystrophy, Miyoshi type 三好型筋ジストロフィー 1 HPS0133* Muscular dystrophy, Myotonic Dystrophy 筋強直性ジストロフィー (筋緊張性ジストロフィー) 1 HPS0540[cell.brc.riken.jp]

  • Congenital Trigeminal Anesthesia

    Masticatory spasm in facial hemiatrophy. Ann Neurol 1980;7:585–587. 52. Kim JS, Choi-Kwon S. Sensory sequelae of medullary infarction.[neupsykey.com] Giant congenital triangular alopecia mimicking alopecia areata.[ijtrichology.com] […] contractions, sustained contraction with succinylcholine Myotonic dystrophy Cataracts, ptosis, strabismus Prone to myotonic contractions, succinylcholine-associated contractions[clinicalgate.com]

  • Autosomal Dominant Spastic Paraplegia Type 13

    hemiatrophy Oral manifestations of systemic disease[en.wikipedia.org] […] disorder of glycosylation, type In 612015 611908 Autosomal recessive RIN2 20p11.23 Macrocephaly, alopecia, cutis laxa, and scoliosis 613075 610222 Autosomal recessive RIPK4[mnglabs.com] Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. ‎[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] Myotonic Dystrophy ( Peggy Tong ). PHC Syndrome (Böök Syndrome) ( Stan P.Hill ). Pierre Robin Syndrome ( James J. Nordlund ). Prolidase Deficiency ( Pranav B.[amazon.it]

  • Autosomal Dominant Prognathism

    Romberg syndrome: Etiology: Unknown Striking features: Hemiatrophy involving muscle, bone and cartilage ( progressive ).[slideshare.net] , Autosomal Recessive 1 Ichthyosis , Congenital , Autosomal Recessive 2 Ichthyosis , Congenital , Autosomal Recessive 4B Ichthyosis With Alopecia , Eclabion, Ectropion ,[familydiagnosis.com] Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. ‎[books.google.es]

  • Cutis Marmorata Telangiectatica Congenita

    hemiatrophy, lipoatrophy, sparse or absent eyelashes and eyebrows, brittle hair, premature aging, sexual immaturity, ichthyosis, dysmyelination, bird-like facies, dental[yumpu.com] In addition to the M-cmtc, Kaity also has hydrocephalus and has vp shunt, Chiari malformation, a seizure disorder, and Myotonic Dystrophy, a form of muscular dystrophy.[globalgenes.org] […] triangular alopecia.[jmedicalcasereports.biomedcentral.com]

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