Hepatomegaly, and Dolichocephaly

Diseases related with Hepatomegaly and Dolichocephaly

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Other less relevant matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dolichocephaly

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Dolichocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Short stature Wide nasal bridge Hypertelorism High forehead Splenomegaly Muscular hypotonia Abnormal facial shape Large fontanelles Acidosis Epicanthus Triangular face Microcephaly Micrognathia Elevated hepatic transaminase Rod-cone dystrophy Hepatosplenomegaly High palate Clinodactyly Diarrhea Macrocephaly Growth delay Depressed nasal bridge Frontal bossing Feeding difficulties Nystagmus Cataract Aciduria Hyperbilirubinemia Jaundice Abnormality of the nervous system

Rare Symptoms - Less than 30% cases

Cirrhosis Cerebral atrophy Patent ductus arteriosus Behavioral abnormality Scaphocephaly Elevated long chain fatty acids Retinopathy Cardiomyopathy Hearing impairment Nevus Motor delay Neonatal hypotonia Edema Hernia Rhizomelia Kyphoscoliosis Optic atrophy Respiratory tract infection Everted lower lip vermilion Cleft palate Anteverted nares Midface retrusion Abnormal heart morphology Upslanted palpebral fissure Intrauterine growth retardation Renal cyst Ataxia Poor suck Pigmentary retinopathy Hepatic fibrosis Camptodactyly Ventriculomegaly Neoplasm Malabsorption Cyanosis Apnea Cholestasis Central hypotonia Diabetes mellitus Posteriorly rotated ears Delayed closure of the anterior fontanelle Postnatal growth retardation Facial palsy Arrhythmia Osteoporosis Congenital cataract Absent speech Skeletal muscle atrophy Visual impairment Delayed speech and language development Spasticity Nyctalopia Convex nasal ridge Ichthyosis Impulsivity Progressive spinal muscular atrophy Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Severe hearing impairment Constriction of peripheral visual field Spinal muscular atrophy Polymicrogyria Leukodystrophy Progressive muscle weakness Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Esotropia Sensorineural hearing impairment Irritability Normocytic hypoplastic anemia Skin rash Progressive cerebellar ataxia Metabolic acidosis Retinal dystrophy Lactic acidosis Lymphadenopathy Leukemia Abnormality of the liver Underdeveloped nasal alae Low-set, posteriorly rotated ears Hypoglycemia Arthralgia Cerebral cortical atrophy Abdominal pain Delayed skeletal maturation Heterotopia Blue sclerae Fluctuating splenomegaly Normocytic anemia Very long chain fatty acid accumulation Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Extramedullary hematopoiesis Clumsiness Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Fluctuating hepatomegaly Abnormality of the eye Elevated levels of phytanic acid Type II diabetes mellitus Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Epidermal acanthosis Overgrowth Cachexia Growth hormone deficiency Decreased antibody level in blood Abdominal distention Ascites Hypodontia Astigmatism Reduced tendon reflexes Premature ovarian insufficiency Delayed puberty Weak voice Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Prominent superficial veins Nephroblastoma Myocardial fibrosis Microglossia Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Infertility Small for gestational age Cryptorchidism Muscular hypotonia of the trunk Cubitus valgus Polycystic kidney dysplasia Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Joint contracture of the hand Single transverse palmar crease Metatarsus adductus Developmental regression Areflexia Abnormality of cardiovascular system morphology Intellectual disability, severe Talipes equinovarus Obesity Clitoral hypertrophy Palpebral edema Broad forehead Dysarthria Intellectual disability, moderate Hypogonadism Severe short stature Depressivity Congestive heart failure Hypoplasia of the corpus callosum Strabismus Turricephaly Stippled chondral calcification Intrahepatic biliary dysgenesis Brushfield spots Optic nerve dysplasia Abnormality of the mitochondrion Hypoplasia of the thymus Abnormality of the helix Elevated serum creatine phosphokinase Downslanted palpebral fissures Thrombocytopenia Type I diabetes mellitus Hepatitis Abnormal lung morphology Umbilical hernia Coarse facial features Chronic diarrhea Hyperactivity Short chin Synophrys Abnormal intestine morphology Dysphagia Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Joint stiffness Hirsutism Abnormality of the hairline Dysostosis multiplex Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Motor deterioration Loss of speech Asthma Restlessness Recurrent upper respiratory tract infections Coarse hair Growth abnormality Hypertrichosis Sleep disturbance Abnormality of the male genitalia Muscle weakness Autoimmunity Inspiratory stridor Hydrocephalus Cerebellar hypoplasia Agenesis of corpus callosum Dyspnea L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Poor eye contact Encephalopathy Stridor Apathy Optic nerve hypoplasia Severe muscular hypotonia Cerebral visual impairment Postnatal microcephaly Atrial septal defect Dystonia Cranial asymmetry Wide anterior fontanel CNS demyelination Periorbital fullness Abnormal cortical bone morphology Renal tubular dysfunction Double outlet right ventricle Cholelithiasis Decreased body weight Respiratory distress Decreased fetal movement Peripheral demyelination Prominent nose Sepsis Hepatic failure Respiratory insufficiency Cellular metachromasia Hypertension Vomiting Mesomelia Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Sparse eyebrow Broad philtrum Preaxial polydactyly Patent foramen ovale Chronic kidney disease Widely spaced teeth Cutis laxa Plagiocephaly Cholangitis Cloverleaf skull Narrow palpebral fissure Anemia Cerebellar atrophy Myopathy Flat occiput Delayed myelination Abnormality of neuronal migration Fever Pain Bile duct proliferation Posterior embryotoxon Dicarboxylic aciduria Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Sparse eyelashes Short ribs Brachydactyly Proptosis Proteinuria Retrognathia Polyhydramnios Polydactyly Respiratory failure Inguinal hernia Pectus excavatum Joint laxity Hypothyroidism Syndactyly Renal insufficiency Abnormality of the dentition Short neck Abnormality of the skeletal system Telecanthus Abnormality of the pinna Neonatal hyperbilirubinemia Microdontia Hydrops fetalis Abnormality of the nasal bridge Left ventricular hypertrophy Narrow forehead Postaxial hand polydactyly Limb undergrowth Ectodermal dysplasia Craniosynostosis Full cheeks Stage 5 chronic kidney disease Smooth philtrum Narrow chest Blepharophimosis Sparse hair Pericardial constriction


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