Anemia, and Severe short stature

Diseases related with Anemia and Severe short stature

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


Top matches:

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

Medium 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

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Other less relevant matches:

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Medium 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

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Top 5 symptoms//phenotypes associated to Anemia and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed skeletal maturation Seizures Global developmental delay Skin rash Basal ganglia calcification Edema Intrauterine growth retardation Prominent nose High pitched voice Narrow face Intellectual disability, mild Ataxia Hearing impairment Hypothyroidism Immunodeficiency Failure to thrive Intellectual disability Postnatal growth retardation Diarrhea Recurrent infections Small for gestational age

Rare Symptoms - Less than 30% cases


Acute myeloid leukemia Combined immunodeficiency Cataract Neoplasm Clinodactyly of the 5th finger Scoliosis Diabetes mellitus Cellular immunodeficiency Recurrent bacterial infections Myeloid leukemia Lymphoma Chromosome breakage Lymphadenopathy Dry skin Autoimmunity Hepatosplenomegaly Leukemia Optic atrophy Myoclonus Skeletal dysplasia Abnormality of the skeletal system Arthralgia Hypoparathyroidism Proportionate short stature Cardiomegaly Infertility Telangiectasia Low-set ears Hyperlordosis Carious teeth Cerebral calcification Micrognathia Cryptorchidism Hypoplasia of dental enamel Cutaneous photosensitivity Ascites Vertigo Cardiomyopathy Recurrent respiratory infections Myopathy Depressed nasal bridge Fatigue Elevated serum creatine phosphokinase Muscle weakness Deeply set eye Spotty hypopigmentation Hypopigmented skin patches Limb muscle weakness Ichthyosis Purpura Abnormal facial shape Talipes Mitochondrial myopathy Hypocalcemia Stroke-like episode High forehead Syndactyly Cerebellar hypoplasia Hyporeflexia Arrhythmia Encephalopathy Depressivity Congestive heart failure Blindness Skeletal muscle atrophy Dysphagia Rod-cone dystrophy Peripheral neuropathy Cognitive impairment Anteverted nares Hyperhidrosis Ptosis Pain Muscular hypotonia Malar flattening Hypogonadism Dementia Dilated cardiomyopathy Pigmentary retinopathy Memory impairment Growth hormone deficiency Syncope Muscle cramps Sensory neuropathy Lactic acidosis Ophthalmoplegia Muscular dystrophy Nystagmus Nyctalopia Retinopathy Paralysis Acidosis Proptosis Abnormality of the dentition Short nose Reduced visual acuity Sensorineural hearing impairment Generalized hypotonia Frontal bossing Cafe-au-lait spot Telangiectasia of the skin Pulmonary fibrosis Squamous cell carcinoma Hand polydactyly Reduced number of teeth Sacral dimple Azoospermia Sinusitis Bronchiectasis Finger syndactyly Abnormality of the face Hypertrichosis Type II diabetes mellitus Specific learning disability Otitis media Abnormality of the skin Decreased antibody level in blood Dolichocephaly Brachydactyly IgA deficiency Facial telangiectasia in butterfly midface distribution IgM deficiency Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability Left ventricular hypertrophy Talipes equinovarus Abnormality of the nose Erythema Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Polydactyly Hypoplasia of the zygomatic bone Protruding ear Acute leukemia IgG deficiency Hodgkin lymphoma Ventricular hypertrophy Fever Abnormality of retinal pigmentation Synophrys Sloping forehead Convex nasal ridge Dental malocclusion Triangular face Tapered finger Single transverse palmar crease Thick eyebrow Facial asymmetry Pulmonic stenosis Hip dislocation Cerebellar vermis hypoplasia Microtia Blepharophimosis Abnormality of the pinna Intellectual disability, moderate Pes planus Retrognathia Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Pancytopenia Pachygyria Clinodactyly Abnormal cortical gyration Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormally large globe Dental crowding Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Dislocated radial head Clitoral hypertrophy Myelodysplasia Patent foramen ovale Sandal gap Narrow palate Elbow flexion contracture Pes cavus Hypospadias EMG abnormality Abnormality of mitochondrial metabolism Increased CSF protein Progressive external ophthalmoplegia Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Bundle branch block Adrenal insufficiency Hemiplegia/hemiparesis Ophthalmoparesis Bilateral ptosis Hyperaldosteronism Nasal speech Incoordination Atrioventricular block Ventricular arrhythmia Ragged-red muscle fibers Reduced tendon reflexes Hypopigmented skin patches on arms Leukoencephalopathy External ophthalmoplegia Heart block Hypomagnesemia Kyphosis Third degree atrioventricular block Hypoplasia of the corpus callosum Ventricular septal defect Downslanted palpebral fissures High palate Cleft palate Strabismus Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Severe lactic acidosis Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Sideroblastic anemia Muscle fiber atrophy Titubation Abnormality of the mitochondrion Anterior hypopituitarism Gait imbalance Osteopenia Immune dysregulation Arthralgia/arthritis Abnormal bleeding Poor coordination Prematurely aged appearance Stroke Prominent supraorbital ridges Cachexia Neoplasm of the skin Neurological speech impairment Bruising susceptibility Migraine Bird-like facies Proteinuria Elevated hepatic transaminase Weight loss Renal insufficiency Hypotelorism Respiratory distress Ventriculomegaly Epistaxis Hypertension Absence of subcutaneous fat Lack of subcutaneous fatty tissue Abnormality of coagulation Dilatation Headache High hypermetropia Delayed cranial suture closure Increased bone mineral density Small nail High myopia Decreased testicular size Neutropenia Congenital cataract Myalgia Hypermetropia Abnormality of the liver Prominent forehead Microphthalmia Macrocephaly Proximal muscle weakness Myopia Flexion contracture Hypertelorism Visual impairment Abnormality of the musculature Hyperphosphatemia Miosis Short toe Chronic diarrhea Thickened skin Abnormality of the metaphysis Inflammatory abnormality of the skin Nephrotic syndrome Sepsis Abnormal thrombocyte morphology Hypotrichosis Dyslexia Pruritus Papule Increased muscle fatiguability Increased mean platelet volume Abnormal platelet morphology Alopecia Upgaze palsy Congenital miosis Splenomegaly Increased body weight Shock Subarachnoid hemorrhage Recurrent viral infections Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Hypoplasia of the thymus Hypoproteinemia Disproportionate short-limb short stature Severe combined immunodeficiency Hashimoto thyroiditis Thyroiditis Aplasia/Hypoplasia of the eyebrow Asplenia Leukocytosis Erythroderma Scaling skin Eosinophilia Papilledema Decreased skull ossification Metaphyseal sclerosis Micromelia Abnormal lung morphology Recurrent otitis media Lumbar hyperlordosis Spastic tetraplegia Hepatitis Telecanthus Tetraplegia Hemolytic anemia Abnormality of the cerebral white matter Encephalitis Platyspondyly Respiratory tract infection Sparse hair Arthritis Kyphoscoliosis Short distal phalanx of finger Hypopigmentation of the skin Spasticity Decreased beta-galactosidase activity Rhizomelia Systemic lupus erythematosus Arthralgia of the hip Irregular vertebral endplates Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Hepatomegaly Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Vitiligo Nephritis Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Scleroderma Hypermelanotic macule Restrictive ventilatory defect Spastic diplegia Metaphyseal irregularity Rheumatoid arthritis Cherry red spot of the macula Angiokeratoma Tetany Stenosis of the medullary cavity of the long bones Inguinal hernia Visual loss Hernia Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Thin long bone diaphyses Coarse facial features Cortical thickening of long bone diaphyses Postnatal macrocephaly Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Anisopoikilocytosis Profound global developmental delay Mucopolysacchariduria Hemangioma Vacuolated lymphocytes Conjunctival telangiectasia Hemophagocytosis Visceromegaly Foam cells Nonimmune hydrops fetalis Dysostosis multiplex Abnormality of the vertebral column Spondyloepiphyseal dysplasia Aortic regurgitation Abnormality of the nervous system Opacification of the corneal stroma Abnormal vertebral morphology Hydrops fetalis Sparse and thin eyebrow Progressive neurologic deterioration Inability to walk Corneal opacity Abnormality of the kidney Mental deterioration Hypoplasia of proximal fibula



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