Macrocephaly, and Jaundice

Diseases related with Macrocephaly and Jaundice

In the following list you will find some of the most common rare diseases related to Macrocephaly and Jaundice 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

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

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Other less relevant matches:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match ZELLWEGER SYNDROME

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Top 5 symptoms//phenotypes associated to Macrocephaly and Jaundice

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Cryptorchidism Hepatomegaly Elevated hepatic transaminase Microcephaly Abnormal facial shape Muscular hypotonia Cataract Congestive heart failure Pain Hypertelorism Ventricular septal defect Hypertension Downslanted palpebral fissures Respiratory distress Overgrowth Metabolic acidosis Hernia Low-set ears Decreased liver function Abnormality of the skeletal system Heterotopia Patent ductus arteriosus High palate Nystagmus Aciduria Anemia Depressed nasal bridge Macrotia Prominent forehead Ataxia Pigmentary retinopathy Ventriculomegaly

Rare Symptoms - Less than 30% cases

Rhabdomyolysis Abnormal electroretinogram Hypoketotic hypoglycemia Hepatic steatosis Exotropia Broad face Anorexia Coma Cholestatic liver disease Aplasia/Hypoplasia of the corpus callosum Gastrointestinal inflammation Nephrocalcinosis Myopia Cardiomyopathy Hepatic failure Myopathy Vomiting Nausea Visual loss Elevated serum creatine phosphokinase Hypoglycemia Hypertrophic cardiomyopathy Abnormality of the liver Dilated cardiomyopathy Abnormal chorioretinal morphology Joint laxity Elevated plasma acylcarnitine levels Leukodystrophy Wide nasal bridge Gait disturbance Depressivity Difficulty walking Polycystic kidney dysplasia Poor head control Round face Wide anterior fontanel Long foot Pachygyria Renal cyst Pulmonary hypoplasia Respiratory insufficiency Encephalopathy Areflexia Abnormality of the pinna Acidosis Epicanthus Poor coordination Reye syndrome-like episodes Respiratory tract infection Hearing impairment Scoliosis Strabismus Delayed speech and language development Optic atrophy Atrial septal defect Behavioral abnormality Vesicoureteral reflux High, narrow palate Prolonged neonatal jaundice Sloping forehead Renal cortical cysts Small nail Hypoplasia of dental enamel Tall stature Accelerated skeletal maturation Glutaric aciduria Large hands Hip dysplasia High forehead Polymicrogyria Hypertonia Conjugated hyperbilirubinemia Delayed myelination Cognitive impairment Motor delay Frontal bossing Anteverted nares Hypoplasia of the corpus callosum Dilatation Neoplasm Broad neck Upslanted palpebral fissure Fatigue Diarrhea Hydronephrosis Agenesis of corpus callosum Headache Hydrocephalus Short stature Carcinoma Broad forehead Umbilical hernia Abdominal pain Hyperreflexia Retinopathy Dyspnea Spasticity Hamartomatous polyposis Glycosuria Ketosis Myoglobinuria Drowsiness Fatigable weakness Central hypotonia Acute kidney injury Difficulty climbing stairs Cardiorespiratory arrest Restrictive ventilatory defect Generalized aminoaciduria Ventricular fibrillation Megaloblastic anemia Methylmalonic aciduria Oliguria Progressive proximal muscle weakness Hypoglycemic coma Episodic vomiting Exercise-induced myalgia Abnormality of the renal tubule Proximal tubulopathy Nonketotic hypoglycemia Impaired mastication Medulloblastoma Abnormal corpus callosum morphology Personality disorder Excessive daytime somnolence Progressive spastic quadriplegia Absence seizures Loss of ability to walk Organic aciduria Acute pancreatitis Respiratory arrest Chronic fatigue Ketonuria Arthrogryposis multiplex congenita Stridor Nephrogenic diabetes insipidus Cardiomegaly Waddling gait Right ventricular hypertrophy Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Muscle cramps Lactic acidosis Abnormality of the genital system Joint hyperflexibility Limb muscle weakness Nausea and vomiting Congenital cataract Abnormality of the cerebral white matter Giant cell hepatitis Lethargy Hyperlordosis Telecanthus Tetraparesis Renal tubular acidosis Eyelid myoclonus Spastic tetraparesis Hemiplegia Back pain Absence seizures with eyelid myoclonia Slurred speech Easy fatigability Postnatal microcephaly Mutism Ragged-red muscle fibers Hyperammonemia Pancreatitis Renal dysplasia Scapular winging Ichthyosis Exercise intolerance Type I diabetes mellitus Cardiac arrest Clonus Nephropathy Lissencephaly Left ventricular hypertrophy Limb tremor Glutaric acidemia Cerebellar vermis hypoplasia Premature birth Multicystic kidney dysplasia Labial hypoplasia Rhizomelia Abnormality of the mitochondrion Large fontanelles Cholestasis Optic disc pallor Profound global developmental delay Ulnar deviation of the hand Tapetoretinal degeneration Abnormality of the helix Macroglossia Single transverse palmar crease Myalgia Hepatic cysts Abnormality of the tongue Stage 5 chronic kidney disease Brachyturricephaly Malabsorption Corneal opacity Feeding difficulties in infancy Redundant neck skin Breech presentation EEG abnormality Metatarsus adductus Epiphyseal stippling Posterior embryotoxon Adrenal hypoplasia Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Flat occiput Aminoaciduria Rocker bottom foot Clitoral hypertrophy Cubitus valgus Pyloric stenosis Bell-shaped thorax Reduced tendon reflexes Severe muscular hypotonia Intellectual disability, progressive Opacification of the corneal stroma Thickened nuchal skin fold Intestinal lymphangiectasia Skeletal dysplasia Pancytopenia Pallor Thrombocytopenia Cerebellar hypoplasia Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Cerebellar atrophy Neuronal loss in central nervous system Ethylmalonic aciduria Reduced protein C activity Ketotic hypoglycemia Increased muscle lipid content External ear malformation Generalized-onset seizure Arthralgia of the hip Narcolepsy Cataplexy Cerebral atrophy Hypoplastic olfactory lobes Glaucoma Renal cortical microcysts Posteriorly rotated ears Delayed skeletal maturation Widely patent fontanelles and sutures Ulnar deviation of the hand or of fingers of the hand Hyporeflexia Hypospadias Malar flattening Renal insufficiency Albuminuria Brushfield spots Intrahepatic biliary dysgenesis Intellectual disability, severe Hyperoxaluria Talipes equinovarus Visual impairment Sensorineural hearing impairment Micrognathia Subependymal cysts Elevated long chain fatty acids Very long chain fatty acid accumulation Sudanophilic leukodystrophy Flat face Gray matter heterotopias Proximal muscle weakness Obsessive-compulsive behavior Intraventricular hemorrhage Ureterocele Metopic synostosis Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Cutis marmorata Overfolded helix Partial absence of the septum pellucidum Sparse eyebrow Abnormality of the urinary system Short chin Renal hypoplasia Urinary incontinence Thin vermilion border Facial asymmetry Attention deficit hyperactivity disorder Craniosynostosis Craniofacial asymmetry Peripheral neuropathy Narrow mouth Tachypnea Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Reduced consciousness/confusion Recurrent hypoglycemia Preeclampsia Multiple lipomas Chorioretinal atrophy Loss of consciousness Hypocalcemia Abnormality of metabolism/homeostasis Sensorimotor neuropathy Abnormality of retinal pigmentation Peripheral demyelination Brain atrophy Hypopigmentation of the skin Polyneuropathy Retinal dystrophy Peripheral axonal neuropathy Nyctalopia Photophobia Thin upper lip vermilion Polydactyly Posterior staphyloma Stomatocytosis Cyanosis Gastrointestinal hemorrhage Chest pain Vertigo Cough Stroke Hypoglycorrhachia Zonular cataract Hemoglobinuria Hyperkalemia Telangiectasia Hyperbilirubinemia Hemolytic anemia Inability to walk Paraplegia Spastic paraplegia Hepatosplenomegaly Absent speech Splenomegaly Brachydactyly Epistaxis Diplopia Hyperactivity Stomach cancer Inguinal hernia Short nose Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Rectal prolapse Hypokalemia Intestinal polyposis Clubbing of fingers Hematochezia Hemoptysis Polycythemia Hamartoma Colon cancer Clubbing Portal hypertension Hypoalbuminemia Acute hepatic steatosis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Arthralgia Bulbous nose Metaphyseal widening Hemangioma Coxa valga Broad thumb Mitral regurgitation Wide intermamillary distance Nevus Bifid uvula Thick eyebrow Arachnodactyly Long fingers Astigmatism Poor speech Prominent nasal bridge Camptodactyly Deeply set eye Retrognathia Osteopenia Long philtrum Flexion contracture Melanocytic nevus Slender finger Cleft palate Muscle weakness Weight loss Gait ataxia Respiratory failure Arrhythmia Edema Dysphagia Tremor Fever Dysarthria Spinal instability Tracheomalacia Narrow foot Hamstring contractures Hyperopic astigmatism Long ear Thin nail Hypoplastic iliac wing Capillary hemangioma Spinal cord compression Patellar dislocation Enlarged kidney Ptosis Abnormality of the cerebral ventricles Abnormality of acid-base homeostasis Hypermetropia Abnormal vertebral morphology Lymphedema Clumsiness Apraxia Renal agenesis Otitis media Hypodontia Joint hypermobility Genu valgum Dolichocephaly Pointed chin Leukemia Abnormality of the kidney Aggressive behavior Conductive hearing impairment Neonatal hypotonia Pes planus Coarse facial features Mandibular prognathia Abnormal heart morphology 3-hydroxydicarboxylic aciduria Narrow face Narrow palate Small cell lung carcinoma Advanced eruption of teeth Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Enlarged cisterna magna Abnormal dermatoglyphics High anterior hairline Acute lymphoblastic leukemia Neuroblastoma Partial agenesis of the corpus callosum Agenesis of permanent teeth Nephroblastoma Precocious puberty Redundant skin Reduced number of teeth Cutis laxa Talipes calcaneovalgus


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