Short stature, and Eczema

Diseases related with Short stature and Eczema

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


Top matches:

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS


Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Low match CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA


Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match NETHERTON SYNDROME


Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Low match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS


Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

Related symptoms:

  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Skin rash
  • Overgrowth


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Short stature and Eczema

Symptoms // Phenotype % cases
Alopecia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Eczema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Dry skin Seizures Growth delay Inflammatory abnormality of the skin Neutropenia Erythroderma Failure to thrive Respiratory tract infection Global developmental delay Recurrent infections Abnormality of the dentition Pneumonia Asthma

Rare Symptoms - Less than 30% cases


Abnormal facial shape Irregular hyperpigmentation Midface retrusion Psoriasiform dermatitis Poikiloderma Hypertelorism Postnatal growth retardation Sparse hair Osteosarcoma Sparse scalp hair Subungual hyperkeratosis Erythema Cutaneous photosensitivity Nail dystrophy Overgrowth Ichthyosis Palmoplantar keratoderma Epidermal acanthosis Abnormality of the hair Microcephaly Abnormality of the nail Scaling skin Frontal bossing Congenital nonbullous ichthyosiform erythroderma Pruritus Congenital ichthyosiform erythroderma Hearing impairment Anemia Arthritis Immunodeficiency Leukemia Splenomegaly Thrombocytopenia Decreased antibody level in blood Lymphadenopathy Pain Atopic dermatitis Arthralgia Abnormal intestine morphology Lymphopenia Abnormality of the musculature Ectopic kidney Malnutrition Severe postnatal growth retardation Allergy Hypothermia Villous atrophy Verrucae Trichorrhexis nodosa Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration Emphysema Recurrent skin infections Intracranial hemorrhage Fever Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Chronic diarrhea Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Weight loss Brittle hair Hydronephrosis Malabsorption Sepsis Dehydration Fine hair Sparse and thin eyebrow Aminoaciduria Sparse eyelashes Acanthosis nigricans Urticaria Brittle scalp hair Parakeratosis IgE-mediated food allergy Malar flattening Tetany Abnormal renal physiology Abnormal pattern of respiration Increased circulating renin level Writer's cramp Hypocalcemic seizures Cortical myoclonus Laryngospasm Hypermagnesiuria Depressed nasal bridge Short nose Respiratory failure Hyperphosphatemia Mandibular prognathia Cough Carious teeth Otitis media Recurrent otitis media Recurrent pneumonia Conjunctivitis Myelodysplasia Increased antibody level in blood Atrophic scars Wheezing Reduced consciousness/confusion Hypomagnesemia Melanoma Hypotension Seborrheic dermatitis Optic atrophy Fatigue Congestive heart failure Behavioral abnormality Depressivity Arrhythmia Abdominal pain Anxiety Paresthesia Muscle cramps Nephrolithiasis Hypoparathyroidism EMG abnormality Hypocalcemia Nephrocalcinosis Abnormality of the fingernails Increased intracranial pressure Reduced bone mineral density Hypercalciuria Hypokalemia Emotional lability Basal ganglia calcification Fatigable weakness Squamous cell carcinoma Hypopigmentation of the skin Telangiectasia Prominent nasal bridge Hypertonia Elevated serum creatine phosphokinase Pes cavus Muscular hypotonia of the trunk Telecanthus Celiac disease Colitis Blepharophimosis Short philtrum Small for gestational age Intellectual disability, severe Synophrys Smooth philtrum Long face Thick eyebrow Prominent nose Underdeveloped nasal alae Esotropia Hypotelorism Broad-based gait Progressive microcephaly Myopathy Wide nasal bridge Short chin Neurodevelopmental delay Primary hypothyroidism Low-set ears Abnormality of the skeletal system Cardiomyopathy Recurrent ear infections Choanal atresia Gingival overgrowth Rhizomelia Leukopenia Recurrent upper respiratory tract infections Upper limb undergrowth Dysarthria Agammaglobulinemia Noncompaction cardiomyopathy Autoimmune thrombocytopenia Autoimmune hemolytic anemia Generalized hypotonia Scleroderma Strabismus Spasticity Delayed speech and language development Hyperreflexia Narrow face Brisk reflexes Recurrent sinopulmonary infections Diarrhea Diabetes mellitus Hypergranulosis Eclabion Thin nail Neoplasm Feeding difficulties Visual impairment Edema Vomiting Prominent forehead Corneal erosion Osteoporosis Hyperhidrosis Hypogonadism Osteopenia Carcinoma Abnormality of skin pigmentation Interstitial pneumonitis Abnormal blistering of the skin Defective B cell activation Decreased T cell activation Lack of skin elasticity Hypothyroidism Thick upper lip vermilion Delayed puberty Achilles tendon contracture Interstitial pulmonary abnormality Flexion contracture Type I diabetes mellitus Abnormality of the pinna Paralysis Scarring Abnormal lung morphology Hemolytic anemia Everted lower lip vermilion Small nail Short finger Open mouth Hypohidrosis Short toe Autoimmunity Hepatosplenomegaly Ectropion Keratitis Absent eyebrow Anhidrosis External genital hypoplasia Blepharitis



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