Abnormality of the skeletal system, and Abnormality of the metaphysis

Diseases related with Abnormality of the skeletal system and Abnormality of the metaphysis

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


Top matches:

Low match METAPHYSEAL ANADYSPLASIA


Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

METAPHYSEAL ANADYSPLASIA Is also known as maroteaux-verloes-stanescu syndrome|regressive metaphyseal dysplasia

Related symptoms:

  • Short stature
  • Joint stiffness
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about METAPHYSEAL ANADYSPLASIA

Low match METAPHYSEAL ANADYSPLASIA 2; MANDP2


Related symptoms:

  • Metaphyseal widening
  • Metaphyseal irregularity
  • Bowing of the legs
  • Short femoral neck
  • Metaphyseal dysplasia


SOURCES: MESH OMIM MENDELIAN

More info about METAPHYSEAL ANADYSPLASIA 2; MANDP2

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match METACHONDROMATOSIS


Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

Related symptoms:

  • Short stature
  • Pain
  • Paralysis
  • Abnormality of the metaphysis
  • Bowing of the long bones


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about METACHONDROMATOSIS

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE


Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Is also known as sed, maroteaux type|brachyolmia, maroteaux type|pseudo-morquio syndrome type 2|pseudo-morquio syndrome, type 2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Intellectual disability, mild
  • Pectus excavatum
  • Clinodactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Low match OSTEOSARCOMA


Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

OSTEOSARCOMA Is also known as osteogenic sarcoma

Related symptoms:

  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis
  • Osteolysis


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSARCOMA

Low match 46,XY SEX REVERSAL 3; SRXY3


46,XY SEX REVERSAL 3; SRXY3 Is also known as disorder of sex development, 46,xy, nr5a1-related|46,xy sex reversal, partial or complete, nr5a1-related|46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure|sex reversal, xy, with or without adrenal failure

Related symptoms:

  • Ambiguous genitalia
  • Clitoral hypertrophy
  • Hypoplasia of the uterus
  • Gonadal dysgenesis
  • Adrenal hyperplasia


SOURCES: OMIM MENDELIAN

More info about 46,XY SEX REVERSAL 3; SRXY3

Low match INTERMEDIATE OSTEOPETROSIS


Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

INTERMEDIATE OSTEOPETROSIS Is also known as autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive, intermediate form

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Pancytopenia
  • Increased bone mineral density


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTERMEDIATE OSTEOPETROSIS

Low match ACHEIROPODIA


Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.

ACHEIROPODIA Is also known as acheiropody|acheiropody, brazilian type|acheiropodia

Related symptoms:

  • Abnormality of the metaphysis
  • Abnormality of epiphysis morphology
  • Short humerus
  • Absent radius
  • Short tibia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACHEIROPODIA

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR


Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).

Related symptoms:

  • Short stature
  • Pain
  • Arthralgia
  • Platyspondyly
  • Waddling gait


SOURCES: OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Abnormality of epiphysis morphology Uncommon - Between 30% and 50% cases
Platyspondyly Rare - less than 30% cases
Bowing of the long bones Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Metaphyseal irregularity Spondyloepimetaphyseal dysplasia Metaphyseal dysplasia Cortical sclerosis Erlenmeyer flask deformity of the femurs Osteopetrosis Hypocalcemia Bone marrow hypocellularity Increased bone mineral density Pancytopenia Penoscrotal hypospadias Seizures Streaky metaphyseal sclerosis Short humerus Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Sex reversal Adrenal hyperplasia Gonadal dysgenesis Hypoplasia of the uterus Clitoral hypertrophy Dense metaphyseal bands Absent hand Absent radius Peromelia Delayed ossification of carpal bones Genu varum Waddling gait Arthralgia Aplasia of the phalanges of the hand Absent metatarsal bone Lower limb peromelia Aplasia of the tarsal bones Absent forearm Short tibia Upper limb phocomelia Aplasia of the fingers Carpal bone aplasia Aplasia of metacarpal bones Absent toe Aplasia of the ulna Abnormality of the tibial metaphysis Fibular aplasia Ambiguous genitalia Pathologic fracture Abnormality of the femoral metaphysis Immunodeficiency Cranial nerve paralysis Bone pain Paralysis Metaphyseal chondrodysplasia Mesomelia Hypercalcemia Rhizomelia Skeletal dysplasia Neoplasm Aseptic necrosis Global developmental delay Short femoral neck Bowing of the legs Metaphyseal widening Abnormality of ulnar metaphysis Abnormality of the lower limb Abnormality of the ulna Aplasia/Hypoplasia of the radius Abnormal joint morphology Exostoses Increased lactate dehydrogenase activity Small nail Abnormal lactate dehydrogenase activity Joint swelling Joint stiffness Elevated alkaline phosphatase Osteolysis Weight loss Fever Small epiphyses Wide intermamillary distance Multiple exostoses Severe short stature Clinodactyly Pectus excavatum Intellectual disability, mild Intellectual disability Multiple digital exostoses Osteochondroma Multiple enchondromatosis Irregular acetabular roof



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Hyperlipidemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more