Abnormality of the skeletal system, and Rhizomelia

Diseases related with Abnormality of the skeletal system and Rhizomelia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Rhizomelia that can help you solving undiagnosed cases.


Top matches:

Low match GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY


Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.

GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as liver glycogen phosphorylase deficiency|glycogen storage disease type vi|gsd type 6|glycogen storage disease type 6|gsd type vi|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|gsd due to liver glycogen phosphorylase deficiency|glycogenosis t

Related symptoms:

  • Short stature
  • Hypoglycemia


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY

Low match HYALURONIDASE DEFICIENCY


HYALURONIDASE DEFICIENCY Is also known as mucopolysaccharidosis type ix|mpsix|mucopolysaccharidosis type 9|mps9

Related symptoms:

  • Short stature
  • Abnormality of the acetabulum


SOURCES: ORPHANET MENDELIAN

More info about HYALURONIDASE DEFICIENCY

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK


Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK Is also known as immunoosseous dysplasia, krakow type

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Immunodeficiency
  • Skeletal dysplasia
  • Rhizomelia


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK

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Other less relevant matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19


Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).

Related symptoms:

  • Short stature
  • Scoliosis
  • Pectus excavatum
  • Severe short stature
  • Kyphoscoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19

Low match OSTEOGENESIS IMPERFECTA, TYPE IX; OI9


Osteogenesis imperfecta is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).

OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 Is also known as oi, type ix

Related symptoms:

  • Scoliosis
  • Growth delay
  • Macrocephaly
  • Kyphosis
  • Pectus excavatum


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE IX; OI9

Low match SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 Is also known as asphyxiating thoracic dystrophy 2|atd2

Related symptoms:

  • Brachydactyly
  • Respiratory insufficiency
  • Polydactyly
  • Cleft lip
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

Low match LANGER MESOMELIC DYSPLASIA


Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|dyschondrosteosis, homozygous

Related symptoms:

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LANGER MESOMELIC DYSPLASIA

Low match SPONDYLOENCHONDRODYSPLASIA


Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE


Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE Is also known as semd, missouri type|spondyloepimetaphyseal dysplasia type 2|semd type 2

Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Skeletal dysplasia
  • Platyspondyly
  • Micromelia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Rhizomelia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
Mesomelia Uncommon - Between 30% and 50% cases
Abnormality of epiphysis morphology Uncommon - Between 30% and 50% cases
Femoral bowing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Rhizomelia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Abnormality of the metaphysis Radial bowing Lumbar hyperlordosis Platyspondyly Blue sclerae Micrognathia Broad palm Narrow chest Disproportionate short-limb short stature Kyphosis Brachydactyly Recurrent fractures Severe short stature Metaphyseal chondrodysplasia Scoliosis Spondyloepimetaphyseal dysplasia Skeletal dysplasia Pectus excavatum Pectus carinatum Cerebral calcification Hyperlordosis Waddling gait Limitation of joint mobility Delayed skeletal maturation Upper airway obstruction Delayed eruption of teeth Abnormality of radial metaphyses Metaphyseal widening Abnormal form of the vertebral bodies Spondylometaphyseal dysplasia Glossoptosis Abnormality of the tibial metaphysis Osteoarthritis Abnormality of ulnar metaphysis Short femur Large iliac wings Progressive spastic quadriplegia Hypoplastic scapulae Metaphyseal enchondromatosis Metaphyseal irregularity Coxa vara Short lower limbs Premature birth Proptosis Midface retrusion Frontal bossing Cleft palate High myopia Sensorineural hearing impairment Flared, irregular rib ends Irregular sclerotic endplates Pear-shaped vertebrae Flattened epiphysis Genu varum Ulnar bowing Metaphyseal cupping Intellectual disability Small epiphyses Flared iliac wings Metaphyseal dysplasia Tibial bowing Limited elbow extension Flared metaphysis Bowing of the legs Abnormality of the dentition Short femoral neck Broad ulna Osteoporosis Polydactyly Respiratory insufficiency Bowing of limbs due to multiple fractures Multiple prenatal fractures Dentinogenesis imperfecta Increased susceptibility to fractures Wormian bones Wide anterior fontanel Joint hypermobility Macrocephaly Oral cleft Growth delay Moderately short stature Vertebral wedging Biconcave vertebral bodies Osteopenia Hypercalcemia Immunodeficiency Neoplasm Global developmental delay Abnormality of the acetabulum Cleft lip Postaxial polydactyly Rudimentary fibula Hypoplasia of the ulna Shortening of the tibia Mesomelic/rhizomelic limb shortening Aplasia/Hypoplasia of the fibula Mesomelic short stature Abnormality of the carpal bones Madelung deformity Abnormality of the ulna Ulnar deviation of finger Hypoglycemia Hypoplasia of the radius Short foot Bowing of the long bones High palate Atlantoaxial instability Thoracic dysplasia Spinal cord compression Short middle phalanx of finger Short ribs Postaxial hand polydactyly Limb undergrowth Short metacarpal Dumbbell-shaped long bone



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