Microcephaly, and Splenomegaly

Diseases related with Microcephaly and Splenomegaly

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


Top matches:

High match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

High match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

High match AICARDI-GOUTIERES SYNDROME 7; AGS7


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

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Other less relevant matches:

High match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

High match HERMANSKY-PUDLAK SYNDROME 10; HPS10


Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

High match MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY


Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

High match AICARDI-GOUTIERES SYNDROME 4; AGS4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

High match COG4-CDG


COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

High match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

High match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Top 5 symptoms//phenotypes associated to Microcephaly and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microcephaly and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hepatosplenomegaly Generalized hypotonia Feeding difficulties Cerebral atrophy Recurrent respiratory infections Ataxia Dystonia Hypertonia Hyperreflexia Pneumonia Recurrent infections Elevated hepatic transaminase Anemia Muscular hypotonia of the trunk Low-set ears Encephalopathy Hyperbilirubinemia Jaundice Absent speech Short stature Cirrhosis Neutropenia Abnormality of the nervous system Spasticity Intellectual disability Immunodeficiency Failure to thrive Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Abnormal facial shape Smooth philtrum Toe walking Dysarthria Gait disturbance Cerebellar atrophy Dysmetria Postural instability Gliosis Pancytopenia Retrognathia Albinism Abnormality of the coagulation cascade Ocular albinism Tremor Abnormality of the cerebral white matter Abnormality of the liver Micronodular cirrhosis Hepatic failure Hepatic steatosis Polyneuropathy Portal hypertension Respiratory tract infection Progressive microcephaly Leukopenia Irritability Hydrocephalus Delayed myelination Paraplegia Lymphadenopathy Macrotia Hypoglycemia Spastic paraplegia Muscle stiffness Neonatal sepsis Limb hypertonia Recurrent bacterial infections Diffuse cerebral atrophy Upslanted palpebral fissure Thick hair Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Posteriorly rotated ears Frontotemporal cerebral atrophy Complex febrile seizures Reduced visual acuity Long philtrum Type II transferrin isoform profile Abnormal protein O-linked glycosylation Fatal liver failure in infancy Intellectual disability, mild Abnormal protein N-linked glycosylation Hypertension Wide nasal bridge Congenital neutropenia Granulocytopenia Convex nasal ridge Failure to thrive in infancy Atrophy/Degeneration affecting the brainstem Hip dysplasia Facial paralysis Bradycardia Lymphocytosis CSF lymphocytic pleiocytosis Conductive hearing impairment Fever Hypoplasia of the corpus callosum Diarrhea Leukodystrophy Carious teeth Sepsis Intermittent thrombocytopenia Sloping forehead Chronic diarrhea Hypercholesterolemia Cerebral calcification Shock Recurrent upper respiratory tract infections Elevated alkaline phosphatase Cardiomyopathy Thin upper lip vermilion Coarse facial features Peripheral neuropathy Rigidity Difficulty walking Hepatic encephalopathy Severe global developmental delay Hypomimic face Echolalia Fair hair Acetabular dysplasia Esophageal varix Astrocytosis Prolonged prothrombin time Poor fine motor coordination Abnormal myelination Hyperglycinemia Unconjugated hyperbilirubinemia Generalized dystonia Visual impairment Vitamin E deficiency Abnormal globus pallidus morphology Abnormal basal ganglia MRI signal intensity Abnormality of amino acid metabolism Pica Decreased serum ferritin Increased total iron binding capacity Copper accumulation in liver Abnormal transferrin saturation Abnormality of divalent inorganic cation homeostasis Strabismus Action tremor Periodontitis Hearing impairment Truncal ataxia Hypertrophic cardiomyopathy Abnormality of movement Lower limb muscle weakness Neurodegeneration Parkinsonism Gastrointestinal hemorrhage Neuronal loss in central nervous system Bradykinesia Abnormality of extrapyramidal motor function Decreased liver function Sensorimotor neuropathy Paraparesis Limb dystonia Spastic paraparesis Photophobia Dysdiadochokinesis Emotional lability Steppage gait Epicanthus Abnormality of coagulation Motor delay Axonal loss Pulmonary fibrosis Interstitial pneumonitis Polycythemia Pruritus Ophthalmoplegia Paralysis Atopic dermatitis Nephrotic syndrome Spastic tetraplegia Tetraparesis Progressive neurologic deterioration Lower limb spasticity Vasculitis Spastic tetraparesis Increased antibody level in blood Pericardial effusion Progressive spastic paraplegia Basal ganglia calcification Serositis Tetraplegia Chilblains Scoliosis Babinski sign Gait ataxia Neurological speech impairment Leukemia Unsteady gait Distal sensory impairment Progressive cerebellar ataxia Decreased antibody level in blood Telangiectasia Brain atrophy Abnormality of eye movement Bone marrow hypocellularity Cataract Neoplasm Clinodactyly Delayed skeletal maturation Respiratory failure Postnatal growth retardation Small for gestational age Adrenal insufficiency Chromosome breakage Recurrent viral infections Lymphoproliferative disorder Stomatitis Brachydactyly Skin rash Macrocephaly Inability to walk Hemolytic anemia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Alopecia Developmental regression Clonus Incoordination Apnea Mitochondrial myopathy Feeding difficulties in infancy Lactic acidosis Metabolic acidosis Ascites Cholestasis Aminoaciduria External ophthalmoplegia Ragged-red muscle fibers Hypoalbuminemia Hyponatremia Progressive external ophthalmoplegia Severe failure to thrive Vomiting Hypothermia Severe lactic acidosis Episodic vomiting Decreased activity of mitochondrial respiratory chain Generalized aminoaciduria Periportal fibrosis Hepatocellular necrosis Abnormal conjugate eye movement Depletion of mitochondrial DNA in liver Ventriculomegaly Respiratory insufficiency Acidosis Myopathy Decreased nerve conduction velocity Abnormal platelet function Myelodysplasia Aplasia/Hypoplasia of the cerebellum Ankle clonus Myeloid leukemia Acute myeloid leukemia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Acute leukemia Gait imbalance Abnormality of neutrophils Vertical nystagmus Increased sensitivity to ionizing radiation Edema Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology EEG abnormality Generalized tonic-clonic seizures Generalized myoclonic seizures Abnormal bleeding Hypotelorism Interstitial pulmonary abnormality Arachnoid cyst Pierre-Robin sequence Muscular hypotonia Aberrant melanosome maturation



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