Macrocephaly, and Headache

Diseases related with Macrocephaly and Headache

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

Top matches:

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Other less relevant matches:

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.

VEIN OF GALEN ANEURYSMAL MALFORMATION Is also known as vein of galen arteriovenous malformations

Related symptoms:

  • Congestive heart failure
  • Headache
  • Dilatation
  • Abnormality of the cerebral vasculature
  • Prominent superficial veins


SOURCES: MESH ORPHANET MENDELIAN

More info about VEIN OF GALEN ANEURYSMAL MALFORMATION

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium 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

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Macrocephaly and Headache

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Increased intracranial pressure Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Irritability Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Headache. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Dilatation Stroke Migraine Nausea and vomiting

Rare Symptoms - Less than 30% cases

Failure to thrive Edema Abnormal facial shape Hepatomegaly Cranial nerve paralysis Fever Cerebral palsy Intellectual disability Neoplasm Blindness Anemia Vomiting Joint dislocation Prominent forehead Vertigo Polymicrogyria Fatigue Global developmental delay Respiratory distress Papule Congestive heart failure Visual impairment Optic atrophy Hypertelorism Increased bone mineral density Acute encephalopathy Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Arthropathy Amyloidosis Uveitis Infantile encephalopathy Juvenile rheumatoid arthritis Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Retinal hemorrhage Fasting hypoglycemia Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Generalized hypotonia Muscular hypotonia Urticaria Malnutrition Cognitive impairment Arthralgia Sensorineural hearing impairment Ketonemia Symmetrical progressive peripheral demyelination Brachydactyly Macrocephaly at birth Frontal bossing Glutaric acidemia Splenomegaly Proptosis Skeletal dysplasia Hepatosplenomegaly Reduced bone mineral density EEG abnormality Myalgia Arthritis Skin rash Lymphadenopathy Premature birth Overgrowth Meningitis Vasculitis Glutaric aciduria Purpura Spasticity Tremor Feeding difficulties Cerebral ischemia Delayed myelination Aciduria Neuronal loss in central nervous system Dehydration Abnormality of extrapyramidal motor function Choreoathetosis Decreased plasma carnitine Dilation of lateral ventricles Large fontanelles Abnormality of the retinal vasculature Ketonuria Abnormal cerebellum morphology Exercise intolerance Leukoencephalopathy Generalized dystonia Malignant hyperthermia Hyperkinesis Encephalitis Hemiplegia Intracranial hemorrhage Bulbar palsy Opisthotonus Gliosis Coma Motor delay Hypoglycemia Spastic diplegia Gait disturbance Dysphagia Cardiomyopathy Myopathy Dystonia Encephalopathy Dementia Hyperhidrosis Acidosis Rigidity Metabolic acidosis Feeding difficulties in infancy Developmental regression Respiratory tract infection Paralysis Neurological speech impairment Abnormality of the cerebral white matter Abnormality of eye movement Abnormality of movement Inability to walk Dyskinesia Growth delay Hamartoma Hepatic vascular malformations Acrokeratosis Arnold-Chiari malformation Communicating hydrocephalus Aqueductal stenosis Dilated fourth ventricle Hydranencephaly Intraventricular hemorrhage Normal pressure hydrocephalus Macroglossia Hand polydactyly Ovarian neoplasm Neoplasm of the thyroid gland Mental deterioration Fibroadenoma of the breast Enlarged cerebellum Trichilemmoma Abnormality of the cerebral vasculature Prominent superficial veins Peripheral arteriovenous fistula Increased head circumference Vein of Galen aneurysmal malformation Short stature Depressed nasal bridge Wide nasal bridge Spontaneous abortion Intellectual disability, severe Conductive hearing impairment Facial palsy Confusion Cleft upper lip Encephalocele Spina bifida Spina bifida occulta Calvarial skull defect Aplasia cutis congenita of scalp Parietal foramina Symmetrical, oval parietal bone defects Brachycephaly High forehead Craniosynostosis Ventriculomegaly Broad forehead Thickened calvaria Mild global developmental delay Broad jaw Muscle weakness Limitation of joint mobility Cerebral calcification Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion Malignant neoplasm of the central nervous system Mandibular prognathia Genu valgum Adenocarcinoma of the colon Polycythemia Gastrointestinal hemorrhage Cyanosis Epistaxis Telangiectasia Diplopia Hypokalemia Hypoalbuminemia Portal hypertension Clubbing Colon cancer Cleft palate Hemoptysis Cough Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Melena Intussusception Multiple gastric polyps Duodenal adenocarcinoma Chest pain Carcinoma Progressive visual loss Bilateral conductive hearing impairment Choanal atresia Elevated alkaline phosphatase Hyperostosis Hyperparathyroidism Papilledema Facial diplegia Choanal stenosis Concave nasal ridge Elevated circulating parathyroid hormone level Parathyroid adenoma Craniofacial hyperostosis Diaphyseal sclerosis Jaundice Craniofacial osteosclerosis Thickened ribs Cortical sclerosis Pain Cryptorchidism Hypertension Diarrhea Hernia Abdominal pain Dyspnea Umbilical hernia Subdural hemorrhage


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