Hepatomegaly, and Spina bifida

Diseases related with Hepatomegaly and Spina bifida

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

Top matches:

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Medium match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Other less relevant matches:

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CLOVES SYNDROME

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Spina bifida

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Micrognathia Failure to thrive Dilatation Strabismus Cataract Hearing impairment Hepatosplenomegaly Abnormality of the skeletal system Splenomegaly Ptosis Abnormality of the kidney Abnormal facial shape Congestive heart failure Cryptorchidism Generalized hypotonia Hypertension Epicanthus Wide nasal bridge Intrauterine growth retardation Gingival overgrowth Hypertelorism Abnormality of the liver Sloping forehead Microcephaly Aganglionic megacolon Multicystic kidney dysplasia Visual impairment Anteverted nares Hydrocephalus Intellectual disability, severe Abnormal cardiac septum morphology Renal insufficiency Renal hypoplasia/aplasia High palate Downslanted palpebral fissures Umbilical hernia Short stature Neoplasm Spina bifida occulta Wide mouth Broad forehead Carcinoma Postaxial hand polydactyly Anemia Macrotia Malabsorption Renal agenesis Hypopigmentation of the skin Myopia Atrial septal defect Horseshoe kidney Depressed nasal bridge Conductive hearing impairment Nystagmus Anal atresia Spinal dysraphism Polydactyly Thrombocytopenia Delayed skeletal maturation Patent ductus arteriosus Syndactyly Portal hypertension Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Abnormality of chromosome stability Frontal bossing Clinodactyly Clinodactyly of the 5th finger Flat face Prominent forehead Vesicoureteral reflux Abnormality of skin pigmentation Cholestasis Arnold-Chiari malformation B-cell lymphoma Aplastic anemia Short palm Decreased antibody level in blood Upslanted palpebral fissure Abnormality of the foot Meningocele Intrahepatic cholestasis Ambiguous genitalia, male Butterfly vertebrae Brachycephaly Neural tube defect Abnormality of the uterus Oligohydramnios Narrow chest Facial asymmetry Arteriovenous malformation Coronal craniosynostosis External ear malformation Biliary atresia Hydronephrosis Hypocalcemia Hypothyroidism Insulin resistance Microphthalmia Pericardial effusion Ectopic kidney Abnormality of the genital system Low-set ears Cognitive impairment Ventricular septal defect Respiratory insufficiency Respiratory distress Cleft palate Diarrhea Lymphopenia Craniosynostosis Cardiomyopathy Joint hypermobility Finger syndactyly Lymphedema Short philtrum Polyhydramnios Coarse facial features Intellectual disability, mild Protruding ear Congenital cataract Short distal phalanx of finger Metaphyseal widening Hirsutism Delayed eruption of teeth Overgrowth Primary hypothyroidism Hypoplastic anemia Hydroureter Hemivertebrae Accelerated skeletal maturation Microcornea Specific learning disability Small hand Iris coloboma Hepatic fibrosis Abnormal vertebral morphology Postaxial foot polydactyly Foot polydactyly Severe global developmental delay Biparietal narrowing Neutropenia Hypoplasia of the ulna Lymphoma Cerebellar vermis hypoplasia Polycystic kidney dysplasia Intellectual disability, progressive Pachygyria Renal dysplasia Squamous cell carcinoma Encephalocele Partial agenesis of the corpus callosum Renal cyst Bowing of the long bones Abnormality of the ureter Stage 5 chronic kidney disease Exocrine pancreatic insufficiency Ataxia Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Abnormality of the hypothalamus-pituitary axis Dyspnea Abnormal form of the vertebral bodies Ventriculomegaly Myoclonus Talipes equinovarus Cerebellar hypoplasia Gastrointestinal hemorrhage Leukemia Irritability Elevated hepatic transaminase Osteoporosis Toe syndactyly Talipes Hepatic failure Severe short stature Bulbous nose Postaxial polydactyly Tetralogy of Fallot Constipation Coarctation of aorta Occipital meningocele Multiple small medullary renal cysts Acidosis Abnormality of the ribs Short neck Flaring of lower rib cage Sparse and thin eyebrow Abnormal heart morphology Pulmonary lymphoma Susceptibility to chickenpox Pectus carinatum Neoplasm of the skin Hypogonadism Biconvex vertebral bodies Hypospadias Abnormality of retinal pigmentation Sparse eyelashes Absent pubertal growth spurt Abnormality of humoral immunity Short ribs Postural instability Rhizomelia Micromelia Severe T-cell immunodeficiency Fever Convex nasal ridge Hyperreflexia Lumbar hyperlordosis Headache Joint hyperflexibility Abnormality of epiphysis morphology Hypotrichosis Arthrogryposis multiplex congenita Blue sclerae Fine hair Depressed nasal ridge Abnormality of the metaphysis Bronchiectasis Fatigue Diabetes mellitus Sparse facial hair Anal stenosis Limited elbow extension Basal cell carcinoma Tibial bowing Abnormality of the hip bone High hypermetropia Metaphyseal dysplasia Macrocytic anemia Metaphyseal cupping Hodgkin lymphoma Cellular immunodeficiency Hypoplasia of the odontoid process Bronchiolitis Esophageal atresia Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Distal arthrogryposis Generalized joint laxity Thrombocytosis Tracheal stenosis Overweight Fair hair Femoral bowing Diaphyseal thickening Impaired lymphocyte transformation with phytohemagglutinin Heart block Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Abnormal palate morphology Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Reduced tendon reflexes Sacral dimple Abnormal T cell morphology Disproportionate short-limb short stature Abnormally ossified vertebrae Abnormal bone ossification Abnormal diaphysis morphology Neonatal short-limb short stature Congenital hypoplastic anemia Large face Abnormality of pelvic girdle bone morphology Hypersplenism Genu varum Cone-shaped epiphysis Normocytic anemia Mucopolysacchariduria Short thorax Mesomelia Upper limb undergrowth Acute myeloid leukemia Weight loss Hemihypertrophy Cleft lip Pelvic mass Enlarged peripheral nerve Splayed toes Epididymal cyst Encephalomalacia Macrodactyly Hemimegalencephaly Epidermal nevus Cranial asymmetry Capillary malformation Venous malformation Cranial hyperostosis Tethered cord Lower limb asymmetry Pulmonary hypoplasia Pyridoxine-responsive sideroblastic anemia Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the preputium Lipoma Hypoglycemia Nevus Generalized-onset seizure Horizontal nystagmus Sandal gap Lipoatrophy Cleft upper lip Intestinal malrotation Almond-shaped palpebral fissure Cystic renal dysplasia Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Urethral atresia Meningoencephalocele Lobulated tongue Elevated alpha-fetoprotein Ambiguous genitalia, female Accessory spleen Cerebellar dysplasia Portal fibrosis Bile duct proliferation Webbed neck External genital hypoplasia Dandy-Walker malformation Hypotelorism Omphalocele Spontaneous abortion Preaxial polydactyly Radial deviation of finger Occipital encephalocele Abnormality of the larynx Natal tooth Anencephaly Adrenal hypoplasia Single umbilical artery Asplenia Breech presentation Abnormal carotid artery morphology Compensated hypothyroidism Proptosis Short thumb Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Cafe-au-lait spot Absent thumb Dolichocephaly Pes planus Hypertrophic cardiomyopathy Abnormality of the eye Postnatal growth retardation Small for gestational age Hip dislocation Astigmatism Telangiectasia Vertigo Bruising susceptibility Pancytopenia Short palpebral fissure Choanal atresia Recurrent urinary tract infections Glucose intolerance Myeloid leukemia Absent testis Abnormal renal morphology Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal localization of kidney Abnormal aortic valve morphology Multiple cafe-au-lait spots Chromosome breakage Hyperlordosis Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation Hearing abnormality Abnormal eyelid morphology Acute monocytic leukemia Abnormality of the ulna Abnormality of the upper limb Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Sparse hair Visual loss Joint laxity Acanthocytosis Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Increased mean platelet volume Generalized osteoporosis Thick upper lip vermilion Macrocephaly Myelomeningocele Prominent metopic ridge Pathologic fracture Bilateral talipes equinovarus Elevated alkaline phosphatase Opacification of the corneal stroma Hyperbilirubinemia Hypoplasia of penis Narrow forehead Cerebral calcification Full cheeks Downturned corners of mouth Thin vermilion border Brachydactyly Hernia Long philtrum Growth abnormality Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Anonychia Large for gestational age Hemangioma Posteriorly rotated ears Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Thick lower lip vermilion Small nail Intellectual disability, profound Bilateral sensorineural hearing impairment Macroglossia Thick vermilion border Thick eyebrow Synophrys Mandibular prognathia Cerebral atrophy Short nose Everted upper lip vermilion Lissencephaly Blindness Small anterior fontanelle Temperature instability Congenital microcephaly Severe lactic acidosis Organic aciduria Cleft soft palate Dilation of lateral ventricles Decreased skull ossification Enlarged cisterna magna Hypoplasia of the fovea Limb hypertonia Progressive microcephaly Apnea Decreased fetal movement Aciduria Limitation of joint mobility Metabolic acidosis Lactic acidosis Generalized tonic-clonic seizures Muscular hypotonia of the trunk Osteopenia Encephalopathy Hypertonia Optic atrophy Feeding difficulties Flexion contracture Behavioral abnormality Autistic behavior Renal sodium wasting Abnormality of neuronal migration Brainstem dysplasia Renal corticomedullary cysts Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Congenital hepatic fibrosis Agenesis of cerebellar vermis Undetectable electroretinogram Tubular atrophy Severe vision loss Congenital blindness Nephronophthisis Molar tooth sign on MRI Polyuria Coloboma Hypoplasia of the brainstem Chorioretinal coloboma Polydipsia Hand polydactyly Aplasia/Hypoplasia of the corpus callosum Tachypnea Heterotopia Highly arched eyebrow Nephropathy Hepatic steatosis Retinal dystrophy Long face Prominent nasal bridge Generalized hypertrichosis Aortic arch aneurysm EEG abnormality Exotropia Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Heart murmur Glomerulosclerosis Corneal dystrophy Hypercholesterolemia Finger clinodactyly Pointed chin Hypertriglyceridemia Renal tubular acidosis Renal hypoplasia Nephrotic syndrome Pigmentary retinopathy Prominent nose Round face Triangular face Hypodontia Cirrhosis Delayed puberty Pulmonic stenosis Pruritus Stroke Retinopathy Keratoconus Posterior embryotoxon Deeply set eye Axenfeld anomaly Skeletal dysplasia Pneumonia Alopecia Recurrent infections Immunodeficiency Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Renal artery stenosis Vitamin D deficiency Papillary thyroid carcinoma Hepatocellular carcinoma Band keratopathy Abnormal anterior chamber morphology Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Scarring Jaundice Prominent eyelashes Respiratory tract infection Cutaneous syndactyly Abnormal intestine morphology Narrow palate Bilateral single transverse palmar creases Joint contracture of the hand Hydrops fetalis Ascites Short foot Lymphadenopathy Smooth philtrum Microtia Camptodactyly of finger Camptodactyly Reduced number of teeth Intellectual disability, moderate Retrognathia Narrow mouth Glaucoma Hyperactivity Recurrent respiratory infections Pectus excavatum Midface retrusion Malar flattening Abnormality of the dentition Edema Mesiodens Short distal phalanx of toe Oligodontia Pyloric stenosis Areflexia Rectal prolapse Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Chylothorax Periorbital edema Hypoalbuminemia Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Hypoplastic iliac wing Edema of the lower limbs Polysplenia Palpebral edema Increased number of teeth Cutaneous finger syndactyly Abnormality of dental morphology Pleural effusion Craniorachischisis


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