Hair Hypoplasia: Causes & Reasons

Possible Causes for Hair Hypoplasia

B Description: Review on Cartilage-hair hypoplasia (CHH), with data on clinics, and the genes involved. [documents.irevues.inist.fr]

Learn More About Cartilage Hair Hypoplasia Select any location for detailed view Locations & Doctors [nemours.org]

Kaitila I, Perheentupa J (1980) Cartilage-hair hypoplasia. [doi.org]

Anauxetic Dysplasia

Cartilage-hair hypoplasia. [ncbi.nlm.nih.gov]

Cartilage Hair Hypoplasia (CHH) Synonyms: Metaphyseal Chondrodysplasia, McKusick type Cartilage Hair Hypoplasia Source/Author: Scott, Charles; Alfred I. duPont Hospital for [lpamrs.memberclicks.net]

[…] term=cartilage+hair+hypoplasia&rank=1 [thinkgenetic.com]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

These findings led to a clinical diagnosis of cartilage-hair hypoplasia. [analesdepediatria.org]

Part A 2007) 3 22 58 Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. [genecards.org]

Symptoms - Anauxetic dysplasia Causes - Anauxetic dysplasia Anauxetic dysplasia is caused by different RMRP mutations than those that cause cartilage-hair hypoplasia and metaphyseal [checkorphan.org]

Mesomelic Dysplasia Type Savarirayan

Hypoplasia Cousin Syndrome Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities Greenberg Dysplasia Langer Mesomelic Dysplasia Leri-Weill Dyschondrosteosis Leri-Weill [familydiagnosis.com]

Cartilage-hair-Hypoplasia ; 4. Metaphyseal Dysplasia Spahr type ; 5. Shwachman-Diamond Syndrome ; 6. Omenn Syndrome ; 7. Metaphyseal Anadysplasia ; 8. [bookdepository.com]

Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 1997; 5: 35-42. 9. 西村玄. Metaphyseal chondrodysplasia McKusick型(cartilage-hair hypoplasia). [molcom.jp]

Metaphyseal Chondrodysplasia, Spahr Type

Cartilage-hair hypoplasia. Bull. Johns Hopkins Hosp. 116: 285-326, 1965. Polmar, S. H., Pierce, G. F. [med2000eco.it]

Cartilage-Hair-Hypoplasia is a rare form of metaphyseal chondrodystrophia. [orthopedie.nl]

Genetic homogeneity of cartilage-hair hypoplasia. Hum. [syndromefinder.ncchd.go.jp]

Metaphyseal Acroscyphodysplasia

hypoplasia (Metaphyseal widening) Craniometaphyseal dysplasia, autosomal dominant ... ... [familydiagnosis.com]

SNOMed Terms: Acroscyphodysplasia Acroscyphodysplasia (disorder) Cartilage hair syndrome Cartilage hair syndrome with associated immunodeficiency Cartilage-hair hypoplasia [medicbind.com]

[…] syndrome with associated immunodeficiency Cartilage-hair hypoplasia with associated immunodeficiency CASE SIGNIFICANCE ID 900000000000448009 900000000000020002 CTV3ID XaA0r [bioportal.bioontology.org]

Metaphyseal Anadysplasia

Cartilage-hair hypoplasia. Progr Pediat Radiol 4:270–298. [updoc.site]

hypoplasia; OMIM # 250250) and to give precise recurrence risks and prognosis. [orbilu.uni.lu]

For McKusick type (cartilage-hair hypoplasia), it is 9p13. In adenosine deaminase deficiency, the locus is 20q-13.11. [encyclopedia.com]

Combined Immunodeficiency due to CD3-Gamma Deficiency

[…] deficiency CD25 deficiency Early-onset inflammatory bowel disease (IL10R deficiency) IL10R alpha IL10R beta Other well-defined PIDs Wiskott–Aldrich syndrome (WAS) Cartilage hair [piduk.org]

Mutations in mitochondrial adenylate kinase 2 have been revealed in patients with reticular dysgenesis. [21] Cartilage-hair hypoplasia is also classified as SCID, although [emedicine.medscape.com]

[…] class I antigen defect caused by mutations in TAP 1 or TAP2 * 6q22–q23 Interferon-R·1 mutations * 8q21 Nijmegan breakage syndrome due to mutations in Nibrin * 9p13 Cartilage hair [musculoskeletalkey.com]

Complement Factor I Deficiency

[…] deficiency CD25 deficiency Early-onset inflammatory bowel disease (IL10R deficiency) IL10R alpha IL10R beta Other well-defined PIDs Wiskott–Aldrich syndrome (WAS) Cartilage hair [piduk.org]

Cartilage-hair hypoplasia.. .. .. Chronic mucocutaneous candidiasis.. .. .. X-linked Lymphoproliferative syndrome. [hawaii.edu]

Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome

Abstract Two children with cartilage-hair hypoplasia suffered from recurrent respiratory-tract infections and contracted unusually severe varicella. [nejm.org]

Cartilage hair hypoplasia, Chédiak-Higashi syndrome, Griscelli syndrome Ocular telangiectasia Ataxia-telangiectasia Oculocutaneous albinism Chédiak-Higashi syndrome Severe [clinicalgate.com]

II: Cartilage-hair hypoplasia. Bull. Johns Hopkins Hosp. 116 (1965). 285-326. 27. Lux, S. E., et al. [healio.com]

Dappled Diaphyseal Dysplasia

Cartilage-Hair-Hypoplasia 34. Shwachman syndrome 35. Omenn Syndrome with metaphyseal chondrodysplasia 36. Metaphyseal An adysplasia 37. Hypophosphatasia 38. [yumpu.com]

hypoplasia. [genome.jp]

For instance, the McKusick type of metaphyseal chondrodysplasia (cartilage-hair hypoplasia) is rare in the general population, but is found in approximately 1 in 500 live [musculoskeletalkey.com]

Ulna Metaphyseal Dysplasia Syndrome

PMID 11207361 Uniparental disomy in cartilage-hair hypoplasia. [atlasgeneticsoncology.org]

For McKusick type (cartilage-hair hypoplasia), it is 9p13. In adenosine deaminase deficiency, the locus is 20q-13.11. [encyclopedia.com]

hypoplasia. [genome.jp]

Immunodeficiency due to MASP-2 Deficiency

Examples are ataxia-telangiectasia, cartilage-hair hypoplasia, DiGeorge syndrome, hyper-IgE syndrome, and Wiskott-Aldrich syndrome. [merckmanuals.com]

[…] severe congenital neutropenia due to G6PC3 deficiency Barth syndrome Behçet disease Blau syndrome Bloom syndrome CANDLE syndrome CINCA syndrome CREST syndrome Cartilage-hair [se-atlas.de]

hypoplasia Autosomal recessive RMRP Short-limbed dwarfism, common and opportunistic infections Combined immunodeficiency with inadequate but not absent T-cell function and [merckmanuals.com]

Hirschsprung Disease Type D-Brachydactyly Syndrome

hypoplasia (MIM.250250) HSAS/MASA (MIM.307000) colorectal aganglionnosis rarely associated Fukuyama congenital muscular dystrophy (MIM.253800) Clayton-Smith syndrome (MIM [humpath.com]

Hirschsprung disease associated with severe cartilage-hair hypoplasia. J Pediatr. 2001;138(6):929-31. [malattierare.regione.veneto.it]

hypoplasia RMRP Central hypoventilation syndrome with or without Hirschsprung disease PHOX2B Central hypoventilation syndrome, congenital ASCL1 Central hypoventilation syndrome [centogene.com]

Tricho-Dento-Osseous Syndrome

Clinical findings of the TDO syndrome are excessively curly (fuzzy) hair, enamel hypoplasia, and skeletal findings of a generalized pattern of osseous sclerosis. [scholars.uthscsa.edu]

Br J Dermatol 83:225–239 Google Scholar Robinson GC, Miller J, Worth HM (1966) Hereditary enamel hypoplasia; its association with characteristic hair structure. [link.springer.com]

AB - The tricho-dento-osseous syndrome (TDO syndrome) involves morphologic abnormalities of hair, teeth, and skeleton. [scholars.uthscsa.edu]

Metaphyseal Chondrodysplasia Type Schmid

Two patients were found to be homozygous for a base substitution G for A at nucleotide 70 of RMRP, which is the major mutation causing cartilage-hair hypoplasia. [ncbi.nlm.nih.gov]

Cartilage-hair hypoplasia. J Med Genet 1995 ; 32 : 39 –43. ↵ Mäkitie O, Kaitila I. Cartilage-hair hypoplasia – clinical manifestations in 108 Finnish patients. [jmg.bmj.com]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

Cartilage-hair-Hypoplasia ; 4. Metaphyseal Dysplasia Spahr type ; 5. Shwachman-Diamond Syndrome ; 6. Omenn Syndrome ; 7. Metaphyseal Anadysplasia ; 8. [amazon.de]

Cartilage-hair-Hypoplasia 4. Metaphyseal Dysplasia Spahr type 5. Shwachman-Diamond Syndrome 6. Omenn Syndrome 7. Metaphyseal Anadysplasia 8. [axon.es]

Oculo-Osteo-Cutaneous Syndrome

hypoplasia 250250 Papular atrichia Congenital atrichia? [keratin.com]

Syndrome Blepharocheilodontic Syndrome Book (Dysplasia) Syndrome Brachymetapody-Anodontia-Hypotrichosis-Albinoidism Cahmr Syndrome Cardiofaciocutaneous Syndrome Cartilage-Hair [nfed.org]

hypoplasia Metaphyseal chonrodysplasia, McKusick type 250250 Congenital alopecia 300042 Congenital atrichia Papular atrichia? [keratin.com]

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

[…] syndrome C syndrome Campomelic dysplasia Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camurati-Engelmann disease Cantu syndrome Carpenter syndrome Cartilage-hair [qlinics.com]

Cartilage-hair-Hypoplasia ; 4. Metaphyseal Dysplasia Spahr type ; 5. Shwachman-Diamond Syndrome ; 6. Omenn Syndrome ; 7. Metaphyseal Anadysplasia ; 8. [bookdepository.com]

Cartilage-hair-Hypoplasia 4. Metaphyseal Dysplasia Spahr type 5. Shwachman-Diamond Syndrome 6. Omenn Syndrome 7. Metaphyseal Anadysplasia 8. [amazon.cn]

Primary CD59 Deficiency

hypoplasia Schimke syndrome Hyper-IgE syndromes (HIES) Job syndrome (AD HIES) AR HIES with mycobacterial and viral infections AR HIES with viral infections and CNS vasculitis [ipidnet.org]

[…] delta syndrome, Alopecia universalis, Alymphoid cystic thymic dysgenesis, Autosomal recessive hyper-IgE syndrome, Autosomal recessive lymphoproliferative disease, Cartilage-hair [bbrauncegat.com]

hypoplasia, Metaphyseal dysplasia without hypotrichosis RNASEH2A Aicardi-GoutiÃ¨res syndrome RNASEH2B Aicardi-GoutiÃ¨res syndrome RNASEH2C Aicardi-GoutiÃ¨res syndrome RPGR [genda.com.ar]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

[…] syndrome C syndrome Campomelic dysplasia Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camurati-Engelmann disease Cantu syndrome Carpenter syndrome Cartilage-hair [qlinics.com]

Spondyloepimetaphyseal dysplasia Matrilin type PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type RMRP Anauxetic dysplasia, Cartilage-hair [genda.com.ar]

hypoplasia RMRP Central hypoventilation syndrome with or without Hirschsprung disease PHOX2B Central hypoventilation syndrome, congenital ASCL1 Central hypoventilation syndrome [centogene.com]

Carpotarsal Osteochondromatosis

hypoplasia, Cartilaginous cancer, Cartwright Nelson Fryns syndrome, Caspase-8 deficiency, Cassavism, Castleman's disease, Castro Gago Pombo Novo syndrome, Cat Eye syndrome [yumpu.com]

Metaphyseal dysplasias Jansen Type AD Schmid Type AD Cartilage-Hair-Hypoplasia (McKusick) AR Metaphyseal anadysplasia (various types) AD/XLD Metaphyseal dysplasia with pancreatic [gamuts.isradiology.org]

hypoplasia Cheirospondyloenchondromatosis Cherubism Childhood-onset hypophosphatasia Chondrodysplasia punctata Chondrodysplasia punctata, Toriello type Chondrodysplasia punctata [se-atlas.de]

Dyschondrosteosis-Nephritis Syndrome

hypoplasia RMRP Sanger Del Dup NGS Catecholaminergic polymorphic ventricular tachycardia NGS panel ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN Del Dup NGS [ctgt.net]

hypoplasia Catecholaminergic polymorphic ventricular tachycar Caveolinopathy CDK9 SYNDROME Central core myopathy Cerebellar hypoplasia Charcot Marie Tooh 2A Charcot Marie [igenomix.us]

Cartilage-hair hypoplasia Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by severe short-limb short stature and hypoplastic [intechopen.com]

Schneckenbecken Dysplasia

Hypoplasia Like Syndrome cartilage-hair hypoplasia CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA chondrodysplasia [rgd.mcw.edu]

[…] disease + bone resorption disease + bone structure disease + Boomerang dysplasia brachyolmia + Caffey disease + campomelic dysplasia + Camurati-Engelmann disease + Cartilage Hair [rgd.mcw.edu]

Acrodysostosis 2 PHEX Hypophosphatemic rickets PLOD1 EDS, kyphoscoliotic PLOD2 Bruck syndrome 2 PPIB OI, recessive PRKAR1A Acrodysostosis 1 PYCR1 Cutis laxa, 2B RMRP Cartilage-Hair-Hypoplasia [skeldys.org]

Familial Neutropenia

Classification of the Inherited Bone Marrow Failure Syndromes Pancytopenia Fanconi's anemia, Shwachman-Diamond syndrome, dyskeratosis congenita, cartilage-hair hypoplasia, [sickkids.ca]

Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. [odlarmed.com]

Myelodysplasia disorders include: Aplastic anemia Fanconi anemia Shwachman-Diamond syndrome Congenital amegakaryocytic thrombocytopenia Dyskeratosis congenital Congenital hair [yellowballoon.org]

Rapp-Hodgkin Syndrome

Topics Zlotogora-Ogur syndrome Ectodermal Dysplasia Pili torti-deafness syndrome Hypohidrosis Hypoplasia of the maxilla Hypodontia Alopecia Entity Handling - dry Hypoplasia [q9.placate.us]

Syndrome Blepharocheilodontic Syndrome Book (Dysplasia) Syndrome Brachymetapody-Anodontia-Hypotrichosis-Albinoidism Cahmr Syndrome Cardiofaciocutaneous Syndrome Cartilage-Hair [nfed.org]

The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. [ncbi.nlm.nih.gov]

Spondyloenchondrodysplasia

hypoplasia. [abstracts.eurospe.org]

Hypoplasia 8 IV Predominant Epiphyseal involvement Pseudoachondroplasia 2 36 Sl no. [slideplayer.com]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. [mendelian.co]

[…] with Renal Dysfunction, Immunodeficiency, and Polydactyly *250250 Cartilage-Hair Hypoplasia; CHH 250460 Metaphyseal Dysplasia Without Hypotrichosis #251260 Nijmegen Breakage [structure.bmc.lu.se]

hypoplasia syndrome (CHH, MIM 250250), a metaphyseal dysplasia with short stature, fine and sparse blond hair, chronic neutropenia, and abnormal cellular immunity. 8 9 This [jmg.bmj.com]

Roifman Syndrome

Some people with cartilage-hair hypoplasia experience gastrointestinal problems. [ghr.nlm.nih.gov]

Cartilage hair hypoplasia (McCusick type) OMIM #250250 3. Schwachman-Diamond syndrome (OMIM #260400) 4. [onlinelibrary.wiley.com]

hypoplasia [AR] Metaphyseal dysplasia without hypotrichosis; MDWH [AR] GeneReviews | OMIM® GHR | GeneReviews | OMIM® GeneReviews | OMIM® RNASEH2A Aicardi-Goutières syndrome [genepeeks.com]

Osteoglophonic Dwarfism

The autosomal recessive metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia, OMIM 250250) is characterized by striking metaphyseal abnormalities in the [rrnursingschool.biz]

Spondyloepimetaphyseal dysplasia Matrilin type PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, SEMD PAPPS2 type RMRP Anauxetic dysplasia, Cartilage-hair [genda.com.ar]

[…] dysplasia MED with microcephaly and nystagmus Metaphyseal dysplasias These include the following conditions: Metaphyseal dysplasia (Schmid, Jansen, and Spahr types) Cartilage-hair [emedicine.medscape.com]