Hepatomegaly, and Long face

Diseases related with Hepatomegaly and Long face

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

Top matches:

High match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

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

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

High match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Top 5 symptoms//phenotypes associated to Hepatomegaly and Long face

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Coarse facial features Wide mouth Intellectual disability, severe Anteverted nares Muscular hypotonia Apnea Ptosis Short neck Depressed nasal bridge Abnormality of cardiovascular system morphology Biparietal narrowing Hypertelorism Sleep apnea Abnormality of the kidney Behavioral abnormality Ataxia Growth delay Nystagmus Strabismus Vesicoureteral reflux Proptosis Retinal dystrophy Macroglossia Delayed skeletal maturation Nephropathy Neoplasm Renal cyst Cryptorchidism Failure to thrive Hearing impairment Short stature Aplasia/Hypoplasia of the corpus callosum Macrocephaly Low-set ears Delayed speech and language development Feeding difficulties in infancy High forehead Neurological speech impairment Hepatosplenomegaly Full cheeks Long philtrum Elevated hepatic transaminase Hernia Downslanted palpebral fissures Mandibular prognathia Blindness Intestinal malrotation Thick vermilion border Umbilical hernia Visual impairment Hydrocephalus Polyhydramnios

Rare Symptoms - Less than 30% cases

Edema Cardiomyopathy Relative macrocephaly Redundant skin Short nose Nephroblastoma Melanocytic nevus Large for gestational age Autism Abnormality of the dentition Wide anterior fontanel Hyperactivity Large fontanelles Cardiomegaly Congenital diaphragmatic hernia Cerebral atrophy Kyphosis Premature birth Recurrent respiratory infections Hypertrophic cardiomyopathy Neurodevelopmental delay Abnormal facial shape Spondylolisthesis Abnormality of the optic nerve Broad face Gastroesophageal reflux Ventricular septal defect Underdeveloped supraorbital ridges Ventriculomegaly Atrial septal defect Recurrent infections Posteriorly rotated ears Prominent forehead Cerebral cortical atrophy CNS hypomyelination Myopia Platyspondyly Hemangioma Narrow palate High, narrow palate Everted lower lip vermilion Nevus Limitation of joint mobility Decreased body weight Optic atrophy Wide nasal bridge Prominent metopic ridge Joint stiffness Dysostosis multiplex Enlarged kidney Nevus flammeus Multiple renal cysts Visceromegaly Cataract Wide nose Anterior creases of earlobe Abnormality of the ulna Feeding difficulties Facial hemangioma Abnormality of the skeletal system Large face Deep palmar crease Microcephaly Micrognathia Severe failure to thrive High palate Cleft palate Narrow forehead Multicystic kidney dysplasia Aplasia/Hypoplasia of the cerebellar vermis Hydronephrosis Hyperreflexia Hypoplasia of the brainstem Cholestatic liver disease Spasticity Sleep disturbance Stage 5 chronic kidney disease Severe global developmental delay Multiple small medullary renal cysts Erythema Hepatic fibrosis Nephronophthisis Prominent nasal bridge Congenital hepatic fibrosis Abnormality of neuronal migration Molar tooth sign on MRI Abnormality of the hypothalamus-pituitary axis Pectus carinatum Coloboma Abnormality of the liver Renal insufficiency Aspiration Chorioretinal coloboma Gait disturbance Iris coloboma Frontal bossing Gingival overgrowth Heterotopia Thickened calvaria Intellectual disability, progressive Macroorchidism Beaking of vertebral bodies Encephalocele Cerebellar vermis hypoplasia Oculomotor apraxia Cirrhosis Aspartylglucosaminuria Genu valgum Postaxial hand polydactyly Oral cleft Highly arched eyebrow Abnormality of the eye Hepatic steatosis Chronic otitis media Agenesis of corpus callosum Dilatation Low-set, posteriorly rotated ears Delayed CNS myelination Abnormality of the testis Abnormality of the nail Sparse eyelashes Abnormality of the sternum Abnormal myocardium morphology Abnormality of the pulmonary artery Multiple lentigines Fine hair Cavernous hemangioma Myocardial infarction Hemiparesis Abnormality of hair texture Excessive wrinkled skin Inflammatory abnormality of the skin Open mouth Thickened skin Cerebral visual impairment Hyperextensibility of the finger joints Abnormal aortic valve morphology Cafe-au-lait spot Subvalvular aortic stenosis Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Lymphedema Hyperpigmentation of the skin Abnormality of refraction Thickened helices Optic nerve hypoplasia Cutis laxa Cubitus valgus Failure to thrive in infancy Bilateral ptosis Sparse eyebrow Scaling skin Pleural effusion Ectropion Generalized hyperpigmentation Curly hair Multiple cafe-au-lait spots Heart murmur Brittle hair Obsessive-compulsive behavior Absent eyebrow Open bite Malnutrition Hydroureter Aplasia/Hypoplasia of the eyebrow Abnormal heart valve morphology Neurofibromas Sparse or absent eyelashes Submucous cleft hard palate Anal stenosis Dystrophic fingernails Premature skin wrinkling Abnormal hair pattern Thick upper lip vermilion Abnormal palate morphology Abnormality of the genitourinary system Woolly hair Delayed gross motor development Short attention span Abnormality of the gastrointestinal tract Long palpebral fissure Hypoplasia of the zygomatic bone Deep philtrum Absent eyelashes Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Palmoplantar hyperkeratosis Abnormality of vision Poor suck Poor appetite Hyperextensible skin Infantile spasms Aortic regurgitation Increased nuchal translucency Visual loss Generalized myoclonic seizures Ascites Neutropenia Nyctalopia Developmental regression Mental deterioration Joint laxity Gait ataxia Brachycephaly Myoclonus Abnormality of metabolism/homeostasis Neuronal loss in central nervous system Diarrhea Motor delay Cognitive impairment Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Vascular skin abnormality Abnormal cortical bone morphology Abnormal vertebral morphology Dyskinesia Malabsorption Carious teeth Gliosis Overgrowth Arthritis Palpebral edema Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Abnormality of the ovary Muscle fibrillation Psychosis Pathologic fracture Emotional lability Acne Widely spaced teeth Hoarse voice Hydrops fetalis Chronic diarrhea Involuntary movements Mitral regurgitation Progressive neurologic deterioration Thick lower lip vermilion Microtia Pes planus Endocarditis Abnormal location of ears Polymicrogyria Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Decreased liver function Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Frontal balding Triangular face Severe muscular hypotonia Tricuspid atresia Cerebral palsy Cervical cord compression Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Mucopolysacchariduria Abnormality of peripheral nerve conduction Constrictive median neuropathy Mitral stenosis Spinal cord compression Obstructive sleep apnea Rhinitis Stridor Coarctation of aorta Lissencephaly Spastic paraparesis Situs inversus totalis Aortic valve stenosis Syncope Retinal degeneration Corneal opacity Skeletal dysplasia Glaucoma Pes cavus Sensorineural hearing impairment Infantile muscular hypotonia Low posterior hairline Thick hair Abnormality of the cardiovascular system Nephrolithiasis Neonatal hypoglycemia Exocrine pancreatic insufficiency Polycythemia Neuroblastoma Prominent occiput Hypercalciuria Arnold-Chiari malformation Accelerated skeletal maturation Tall stature Omphalocele Hemihypertrophy Prominent nose Poor speech Hypoglycemia Hypothyroidism Obesity Midface retrusion Intrahepatic biliary atresia Chronic hepatic failure Abnormal pattern of respiration Esophageal varix Diastasis recti Gonadoblastoma Optic nerve coloboma Infra-orbital crease Flexion contracture Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Branchial cyst Adrenocortical carcinoma Ureteral duplication Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Choroideremia Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Neoplasm of the liver Abnormality of abdomen morphology Talipes equinovarus Anemia Congenital blindness Polyuria Polydipsia Hand polydactyly Polycystic kidney dysplasia Tachypnea Aganglionic megacolon Pachygyria Autistic behavior Dyspnea Copper accumulation in liver Foot polydactyly Decreased serum ceruloplasmin Elevated alkaline phosphatase of bone origin Abnormal glycosylation Increased LDL cholesterol concentration Prolonged neonatal jaundice Hypercholesterolemia Hepatic failure Jaundice Elevated serum creatine phosphokinase Skeletal muscle atrophy Severe vision loss Postaxial foot polydactyly Occipital encephalocele Polydactyly Aplasia/Hypoplasia of the cerebellum Portal hypertension Chronic kidney disease Cholestasis Apraxia Gastrointestinal hemorrhage Round face Abnormality of eye movement Intellectual disability, moderate Abnormality of the nervous system Cerebellar hypoplasia Tubular atrophy Tremor Hypertension Renal sodium wasting Brainstem dysplasia Occipital meningocele Renal corticomedullary cysts Tubulointerstitial fibrosis Dilated fourth ventricle Agenesis of cerebellar vermis Undetectable electroretinogram Intrauterine growth retardation Hypoplasia of the corpus callosum Progressive visual loss Constipation Respiratory tract infection Irritability Telecanthus Aggressive behavior EEG abnormality Osteopenia Macrotia Hyperkeratosis Hyperhidrosis Alopecia Clinodactyly of the 5th finger Scarring Abnormal heart morphology Encephalopathy Pectus excavatum Depressivity Thrombocytopenia Malar flattening Congestive heart failure Hypertonia Vomiting Dysphagia Sparse hair Abnormal cardiac septum morphology Epicanthus Abnormality of skin pigmentation Growth hormone deficiency Webbed neck Dental malocclusion Abnormal bleeding Abdominal distention Palmoplantar keratoderma Bruising susceptibility Bulbous nose Falls Joint hypermobility Peripheral axonal neuropathy Leukemia Ichthyosis Dry skin Astigmatism Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Pruritus Dysarthria Delayed peripheral myelination Syndactyly Hirsutism Short toe Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Dandy-Walker malformation Convex nasal ridge Wide intermamillary distance Tapered finger Short foot Cleft upper lip Low anterior hairline Talipes Synophrys Narrow chest Camptodactyly of finger Retinopathy Camptodactyly Cleft lip Muscular hypotonia of the trunk Retrognathia Upslanted palpebral fissure Bradycardia Elbow flexion contracture Hyperechogenic pancreas Capillary hemangioma Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Abnormality of the pancreas Thoracolumbar scoliosis Joint dislocation Severe intrauterine growth retardation Ulnar deviation of finger Dislocated radial head Broad palm Short thorax Supernumerary nipple Overlapping toe Elbow dislocation Trigonocephaly Sacral dimple Angiofibromas


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Clinodactyly of the 5th finger, related diseases and genetic alterations Feeding difficulties and Cyanosis, related diseases and genetic alterations