Global developmental delay, and Skin rash

Diseases related with Global developmental delay and Skin rash

In the following list you will find some of the most common rare diseases related to Global developmental delay and Skin rash that can help you solving undiagnosed cases.

Top matches:

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Other less relevant matches:

Medium match HYPERTRYPTOPHANEMIA

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium 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

Top 5 symptoms//phenotypes associated to Global developmental delay and Skin rash

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Short stature Developmental regression Alopecia Ataxia Splenomegaly Generalized hypotonia Spasticity Hepatomegaly Fever Anemia Recurrent infections

Rare Symptoms - Less than 30% cases

Weight loss Dystonia Irritability Urticaria Acidosis Asthma Spastic paraplegia Paraplegia Progressive neurologic deterioration Scaling skin Progressive spastic paraplegia Lower limb spasticity Muscular hypotonia Dry skin Toe walking Malnutrition Atopic dermatitis Allergic rhinitis Lethargy Feeding difficulties in infancy Nystagmus Intrauterine growth retardation Feeding difficulties Aciduria Eczema Lymphadenopathy Inflammatory abnormality of the skin Recurrent respiratory infections Hydrocephalus Retinopathy Pancytopenia Confusion Abnormality of the skin Cutaneous photosensitivity Melanoma Diplopia Optic atrophy Cachexia Dermal atrophy Neutropenia Basal cell carcinoma Prematurely aged appearance Poikiloderma Psychosis Hearing impairment Incoordination Cystathioninuria Decreased methylcobalamin Arteriosclerosis Hyperhomocystinemia Glossitis Decreased adenosylcobalamin Methylmalonic acidemia Decreased methionine synthase activity Homocystinuria Dysarthria Methylmalonic aciduria Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Cystathioninemia Megaloblastic bone marrow Rheumatoid arthritis Demyelinating peripheral neuropathy Progressive microcephaly Squamous cell carcinoma of the skin Irregular hyperpigmentation Sparse eyelashes Acanthosis nigricans Abnormal intestine morphology Recurrent skin infections Brittle hair Intracranial hemorrhage Psoriasiform dermatitis Erythroderma Emphysema Ectopic kidney Abnormality of the musculature Congenital ichthyosiform erythroderma Severe postnatal growth retardation Abnormality of the hair Hypothermia Villous atrophy Verrucae Allergy Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Hypernatremic dehydration Brittle scalp hair Aminoaciduria Sparse and thin eyebrow Abnormality of amino acid metabolism Vasculitis Numerous pigmented freckles Cerebral atrophy Absent speech Muscular hypotonia of the trunk Abnormality of the cerebral white matter Abnormality of eye movement Tetraplegia Brain atrophy Nephrotic syndrome Spastic tetraplegia Tetraparesis Microtia Spastic tetraparesis Sparse scalp hair Increased antibody level in blood Pericardial effusion Basal ganglia calcification Serositis Chilblains Hydronephrosis Pruritus Malabsorption Ichthyosis Sepsis Decreased antibody level in blood Dehydration Fine hair Small for gestational age Lactic acidosis Arthritis Generalized dystonia Falls Hemolytic anemia Cerebral calcification Frequent falls Leukodystrophy Clonus Ankle clonus Freckling Loss of speech Moderate global developmental delay Rigidity Loss of ability to walk Limb tremor Hypertelorism Strabismus Sensorineural hearing impairment Flexion contracture Visual impairment Myopia Behavioral abnormality Depressivity Abnormality of the nervous system Babinski sign Pes planus Immunodeficiency Abnormal facial shape Frontal bossing Cardiomyopathy Gastroesophageal reflux Dilated cardiomyopathy Cafe-au-lait spot Reduced subcutaneous adipose tissue Malar rash Neoplasm Fatigue Dilatation Tremor Pneumonia Respiratory failure Respiratory tract infection Hepatic failure Lymphoma Bronchiectasis Sinusitis Recurrent pneumonia Recurrent sinusitis Chronic infection Arthralgia Aggressive behavior Thin upper lip vermilion Tachypnea Erythroid hyperplasia Calvarial hyperostosis Respiratory distress Vomiting Hypertonia Hypotrichosis Nausea and vomiting Metabolic acidosis Coma Anorexia Hyperammonemia Exocrine pancreatic insufficiency Hyperventilation Organic aciduria Keratoconjunctivitis Desquamation of skin soon after birth Congenital lactic acidosis Perioral eczema Low-set ears High palate Epicanthus Abnormal heart morphology Anemia of inadequate production Rhinitis Joint laxity Stuttering Intellectual disability, moderate Camptodactyly of finger High myopia Interphalangeal joint contracture of finger Adducted thumb Emotional lability Limited elbow extension Overweight Generalized joint laxity Mood swings Hypersexuality Steatorrhea Tryptophanuria Head-banging Delayed skeletal maturation Osteopenia Jaundice Hepatosplenomegaly Carious teeth Hyperbilirubinemia Hyperostosis Abnormality of the coagulation cascade IgE-mediated food allergy


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