{"Name":"Metaphyseal dysplasia without hypotrichosis","DiseaseID__c":"GARD:0010622","id":10622,"encodedName":"metaphyseal-dysplasia-without-hypotrichosis","IsDeleted":false,"Disease_Name_Full__c":"Metaphyseal dysplasia without hypotrichosis","Xref_IDs__c":"C1834821; C563574; MEDGEN:320444; MONDO:0009601; OMIM:250460","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1834821","Disease_Description__c":"The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.","GARD_Name__c":"Metaphyseal dysplasia without hypotrichosis","GARD_Synonym__c":"cartilage-hair hypoplasia variant, skeletal manifestations only; cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; metaphyseal dysplasia without hypotrichosis  (mdwh)","Curated_Disease_Description_Source__c":"MEDGEN:C1834821","Curated_Disease_Description__c":"This rare bone growth disease belongs to a group of related disorders that affect how the bones and other parts of the body develop, starting before birth or in the newborn period. These disorders include several forms that share features. For example, very short height with arms and legs that are shorter than the trunk, a symptom that is often noticed at birth or before birth with imaging. Other common features can include very flexible joints, fine and silky hair, problems with the immune system, low red blood cell counts (anemia), a higher chance of developing cancer, and digestive system problems. Some people may also have reduced sperm production. The most severe form in this spectrum affects the skeleton, can involve instability between the bones at the top of the spine in newborns, and may be linked with learning or thinking difficulties. Symptoms and severity can vary greatly, even among members of the same family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009601","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"This rare bone growth disease belongs to a group of related disorders that affect how the bones and other parts of the body develop, starting before birth or in the newborn period. These disorders include several forms that share features. For example, very short height with arms and legs that are shorter than the trunk, a symptom that is often noticed at birth or before birth with imaging. Other common features can include very flexible joints, fine and silky hair, problems with the immune system, low red blood cell counts (anemia), a higher chance of developing cancer, and digestive system problems. Some people may also have reduced sperm production. The most severe form in this spectrum affects the skeleton, can involve instability between the bones at the top of the spine in newborns, and may be linked with learning or thinking difficulties. Symptoms and severity can vary greatly, even among members of the same family.","Curated_Disease_Description_Source__c":"MEDGEN:C1834821","GARD_Synonym__c":"cartilage-hair hypoplasia variant, skeletal manifestations only; cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; metaphyseal dysplasia without hypotrichosis  (mdwh)","Name":"Metaphyseal dysplasia without hypotrichosis","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/250460","Source__c":"C1834821; MONDO:0009601","Xref__c":"OMIM:250460"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563574","Source__c":"MONDO:0009601","Xref__c":"C563574"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320444","Source__c":"C1834821","Xref__c":"MEDGEN:320444"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834821","Source__c":"C1834821","Xref__c":"C1834821"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009601","Source__c":"GARD:0010622","Xref__c":"MONDO:0009601"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK84550","Source__c":"Gene Review","Xref__c":"NBK84550"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RMRP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rmrp","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010230","HPO_Synonym__c":"Cone-shaped end part of finger bones; Cone-shaped epiphyses of hand; Cone-shaped epiphyses of the fingers; Coned epiphyses of hands; Conical phalangeal epiphyses","HPO_Name__c":"Cone-shaped epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of dysplastic regions in metaphyseal regions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100255","HPO_Name__c":"Metaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","Feature__r":{"HPO_Description__c":"Metaphyseal cupping affecting the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006028","HPO_Synonym__c":"Cupping of wide portion of long bone of hand; Metacarpal/metaphyseal cupping","HPO_Name__c":"Metaphyseal cupping of metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031367","HPO_Synonym__c":"Striated metaphysis","HPO_Name__c":"Metaphyseal striations","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250460","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cartilage-hair hypoplasia variant, skeletal manifestations only"," cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency"," metaphyseal dysplasia without hypotrichosis  (mdwh)"]}