Macrocephaly, and Hemolytic anemia

Diseases related with Macrocephaly and Hemolytic anemia

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

Top matches:

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Other less relevant matches:

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Top 5 symptoms//phenotypes associated to Macrocephaly and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Spasticity Nystagmus Hypertelorism Splenomegaly Hyperreflexia Failure to thrive

Rare Symptoms - Less than 30% cases

Congestive heart failure Hematochezia Cerebral atrophy Edema Diarrhea Fatigue Patent ductus arteriosus Gastrointestinal hemorrhage Pain Myoclonus Colon cancer Neoplasm Hamartomatous polyposis Clubbing of fingers Hypomagnesemia Intestinal polyposis Stomach cancer Hypoplasia of the corpus callosum Muscle weakness Developmental regression Cognitive impairment Stroke Tall stature Generalized-onset seizure Limb undergrowth Intellectual disability, moderate Paresthesia Vomiting Atrial septal defect Anteverted nares Growth delay Cataract Absent speech Falls Jaundice Hepatosplenomegaly Spastic paraplegia Paraplegia Irritability Delayed myelination Hydrocephalus Dystonia Hypocalcemia Frequent falls Lower limb spasticity Clubbing Depressed nasal bridge Short stature Abdominal pain Delayed skeletal maturation Abnormal facial shape Tremor Hypoalbuminemia Generalized hypotonia Hypoglycorrhachia Hypokalemia Hemoglobinuria Ataxia Short chin Brain atrophy Triangular face Increased head circumference Leukopenia Short femoral neck Osteopetrosis Nail dystrophy Autoimmunity Uncontrolled eye movements Increased density of long bones Weight loss Alopecia Facial palsy Pulmonary embolism Prominent forehead Congenital hypoparathyroidism Hydrops fetalis Ascites Hematuria Respiratory insufficiency Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Hemangioma Thin clavicles Birth length less than 3rd percentile Hypocalcemic tetany Hypocalcemic seizures Long clavicles Generalized tonic seizures Delayed closure of the anterior fontanelle Tetany Venous thrombosis Prolonged bleeding time Thrombocytopenia Upper limb asymmetry Frontal bossing Gait disturbance Optic atrophy Feeding difficulties Strabismus Abnormality of skeletal morphology Peripheral arteriovenous fistula Internal hemorrhage Abnormal tricuspid valve morphology Microcytic anemia Abnormality of the menstrual cycle Abnormality of the pulmonary artery Venous insufficiency Lower limb asymmetry Hypercoagulability Abnormality of the skull Abnormality of skin pigmentation Cellulitis Malabsorption Furrowed tongue Tapered finger Talipes equinovarus Joint laxity Skeletal dysplasia Hypothyroidism Constipation Elevated serum creatine phosphokinase Dilatation Cardiomyopathy Motor delay Dry skin Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Hip dislocation Flat face Hemoptysis Coxa vara No permanent dentition Thyroid hormone receptor defect Long thorax Drowsiness Congenital hypothyroidism Relative macrocephaly Hypercholesterolemia Wormian bones Delayed eruption of teeth Congenital hip dislocation Increased body weight Hoarse voice Clumsiness Omphalocele Broad-based gait Macroglossia Rectal prolapse Polycythemia Nail dysplasia Sparse body hair Protein-losing enteropathy Dystrophic fingernails Dystrophic toenail Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Aplasia/Hypoplasia of the eyebrow Patchy alopecia Hypoplastic toenails Cachexia Abnormal intestine morphology Abnormality of the fingernails Hyperpigmentation of the skin Lymphedema Anorexia Peripheral edema Glossitis Hamartoma Cough Portal hypertension Diplopia Telangiectasia Epistaxis Cyanosis Chest pain Vertigo Carcinoma Gastrointestinal carcinoma Umbilical hernia Dyspnea Hernia Headache Respiratory distress Hypertension Cryptorchidism Decreased taste sensation Decreased skull ossification Abnormality of the head Severe postnatal growth retardation Vesicoureteral reflux Hypsarrhythmia Overgrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Gliosis Inflammatory abnormality of the skin Sepsis Generalized myoclonic seizures Downturned corners of mouth Wide nose Short distal phalanx of finger Hepatic failure Cirrhosis Small nail Large fontanelles Abnormality of eye movement Overfolded helix Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Large for gestational age Scaling skin Postnatal microcephaly Redundant skin Elevated alkaline phosphatase Deep philtrum Widely spaced teeth Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Ichthyosis Wide mouth High anterior hairline Stomatocytosis Short neck High palate Flexion contracture Cleft palate Micrognathia Hearing impairment Zonular cataract Conjugated hyperbilirubinemia Short nose Broad neck Hyperkalemia Hyperbilirubinemia Inability to walk Macrotia Hypertonia Brachydactyly Cerebellar atrophy Long philtrum Apnea Micropenis Abnormality of the eye Muscular hypotonia of the trunk Neonatal hypotonia Coarse facial features Retrognathia Polyhydramnios Narrow mouth Respiratory failure Malar flattening Cerebral cortical atrophy Upslanted palpebral fissure Posteriorly rotated ears Cerebellar hypoplasia Pneumonia Encephalopathy Obesity Cardiorespiratory arrest Developmental stagnation Hypoparathyroidism Impulsivity Torsion dystonia Episodic ataxia Action tremor Hand tremor Reticulocytosis Hyperactive deep tendon reflexes Atonic seizures Focal impaired awareness seizure Limb dysmetria Hemiplegia Slurred speech Absence seizures Horizontal nystagmus Progressive microcephaly Limb ataxia Involuntary movements Migraine without aura Paroxysmal dyskinesia Specific learning disability Small hand Proportionate short stature Thin ribs Slender long bone Delayed cranial suture closure Recurrent bacterial infections Full cheeks Short foot Short palm Paroxysmal dystonia Carious teeth Postnatal growth retardation Intrauterine growth retardation Generalized tonic-clonic seizures without focal onset Upper limb dysmetria Focal aware seizure Jerky head movements Choreoathetosis Focal-onset seizure Breech presentation Babinski sign Clonus Leukodystrophy Progressive neurologic deterioration Cerebral calcification Skin rash Abnormality of the nervous system Rigidity Abnormality of the pons Ankle clonus Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Seborrheic dermatitis Toe walking Freckling Migraine EEG abnormality Chorea Dyskinesia Dysmetria Abnormality of movement Generalized tonic-clonic seizures Mental deterioration Aggressive behavior Gait ataxia Progressive spastic paraplegia Intellectual disability, mild Dysarthria Limb tremor Loss of ability to walk Moderate global developmental delay Generalized dystonia Loss of speech Increased T3/T4 ratio


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