Anemia, and Skeletal dysplasia

Diseases related with Anemia and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Anemia and Skeletal dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match GHOSAL HEMATODIAPHYSEAL DYSPLASIA


Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

GHOSAL HEMATODIAPHYSEAL DYSPLASIA Is also known as ghosal syndrome|diaphyseal dysplasia-anemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Gait disturbance
  • Splenomegaly
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GHOSAL HEMATODIAPHYSEAL DYSPLASIA

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

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Other less relevant matches:

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Top 5 symptoms//phenotypes associated to Anemia and Skeletal dysplasia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypotrichosis Abnormal facial shape Edema Diarrhea Splenomegaly

Rare Symptoms - Less than 30% cases


Metaphyseal widening Metaphyseal dysplasia Metaphyseal irregularity Rhizomelia High myopia Increased body weight Short toe Neutropenia Lymphadenopathy Arthralgia Hypertelorism Hearing impairment Brachydactyly Hepatomegaly Fever Macrocephaly Depressed nasal bridge Dry skin Severe short stature Hypothyroidism Skin rash Constipation Coarse facial features Myopia Opacification of the corneal stroma Cataract Abnormality of the nervous system Frontal bossing Abnormality of the metaphysis Corneal opacity Visual impairment Ataxia Nausea and vomiting Progressive neurologic deterioration Papule Generalized hypotonia Microcephaly Leukocytosis Failure to thrive Neoplasm Vasculitis Overgrowth Premature birth Migraine Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Joint dislocation Purpura Elevated erythrocyte sedimentation rate Arthritis Urticaria Reduced bone mineral density Meningitis Increased intracranial pressure EEG abnormality Myalgia Proptosis Oligosacchariduria Blindness Abnormality of abdomen morphology Photophobia Developmental regression Abnormality of the cerebral white matter Abnormality of eye movement Retinal degeneration Retinal dystrophy Esotropia Spastic tetraplegia Amblyopia Aspiration Iron deficiency anemia Palpebral edema Severe vision loss Increased serum ferritin Fatigue Developmental stagnation Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Uveitis Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Sensorineural hearing impairment Amyloidosis Pain Juvenile rheumatoid arthritis Inguinal hernia Cardiomegaly Ascites Inability to walk Abnormality of the kidney Mental deterioration Myoclonus Visual loss Hydrops fetalis Hernia Seizures Hypoplastic iliac body Cervical subluxation Cervical cord compression Broad phalanx Telangiectasia Abnormal vertebral morphology J-shaped sella turcica Hemophagocytosis Cherry red spot of the macula Arthralgia of the hip Angiokeratoma Mucopolysacchariduria Vacuolated lymphocytes Conjunctival telangiectasia Visceromegaly Aortic regurgitation Foam cells Nonimmune hydrops fetalis Dysostosis multiplex Abnormality of the vertebral column Spondyloepiphyseal dysplasia Hemangioma Atlantoaxial dislocation Shallow acetabular fossae Abnormal thrombocyte morphology Flexion contracture Reduced visual acuity Midface retrusion Kyphosis Intellectual disability, mild Respiratory insufficiency Short neck Abnormal granulocyte morphology Hyperlordosis Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Kyphoscoliosis Platyspondyly Hypoplasia of the capital femoral epiphysis Short finger Delayed ossification of carpal bones Small epiphyses Hypoplastic ilia Ovoid vertebral bodies Thoracic kyphosis Disproportionate short stature Flared metaphysis Hypodontia Rocker bottom foot Elbow flexion contracture Aortic valve stenosis Lumbar hyperlordosis Hypotelorism Tetraplegia Mandibular prognathia Congenital hip dislocation Babinski sign Inflammatory abnormality of the skin Prolonged prothrombin time Normocytic anemia Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Immunodeficiency Pneumonia Alopecia Autoimmunity Pruritus Sepsis Lymphoma Nephrotic syndrome Thickened skin Mild global developmental delay Chronic diarrhea Recurrent bacterial infections Shock Disproportionate short-limb short stature Eosinophilia Scaling skin Erythroderma Combined immunodeficiency Aplasia/Hypoplasia of the eyebrow Thyroiditis Hashimoto thyroiditis Severe combined immunodeficiency Hypoproteinemia Recurrent viral infections Prolonged partial thromboplastin time Severe failure to thrive Cellular immunodeficiency Craniofacial hyperostosis Gait disturbance Neurological speech impairment Abnormal form of the vertebral bodies Bowing of the long bones Increased bone mineral density Bone marrow hypocellularity Leukopenia Abnormality of pelvic girdle bone morphology Hyperostosis Abnormality of immune system physiology Abnormal cortical bone morphology Abnormality of femur morphology Abnormality of tibia morphology Diaphyseal thickening Exocrine pancreatic insufficiency Myelofibrosis Refractory anemia Diaphyseal dysplasia Hyperostosis cranialis interna Low-set ears High palate Feeding difficulties Respiratory tract infection Severe muscular hypotonia Genu varum Laryngomalacia Mild short stature Neurodevelopmental delay Steatorrhea Hypoplasia of the thymus Metaphyseal chondrodysplasia Absent speech Relative macrocephaly Intellectual disability, moderate Hip dislocation Flat face Delayed eruption of teeth Macroglossia Limb undergrowth Broad-based gait Omphalocele Clumsiness Hoarse voice Wormian bones Coxa vara Hypercholesterolemia Congenital hypothyroidism Elevated serum creatine phosphokinase Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Nystagmus Strabismus Muscular hypotonia Spasticity Hyperreflexia Optic atrophy Hypoplasia of the corpus callosum Cerebellar atrophy Dystonia Joint laxity Delayed skeletal maturation B lymphocytopenia Brittle hair Recurrent fungal infections Protracted diarrhea Generalized lymphadenopathy Abnormal lymphocyte morphology Desquamation of skin soon after birth Severe B lymphocytopenia Hypogonadism Osteopenia Nail dystrophy Palmoplantar keratoderma Microdontia Cutaneous photosensitivity Short thumb Hypoplasia of the radius Myelodysplasia Dilatation Absent eyebrow Squamous cell carcinoma Basal cell carcinoma Prematurely aged appearance Absent eyelashes Osteosarcoma Poikiloderma Concave nasal ridge Hypoplasia of teeth Cognitive impairment Motor delay Talipes equinovarus Anteverted nares Cardiomyopathy Decreased beta-galactosidase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Intellectual disability, mild, related diseases and genetic alterations Autoimmunity and Dental crowding, related diseases and genetic alterations Dysarthria and Abnormality of the metaphysis, related diseases and genetic alterations Lymphoma and Hypoplasia of the maxilla, related diseases and genetic alterations Cryptorchidism and Cleft upper lip, related diseases and genetic alterations

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