Hepatomegaly, and Long philtrum

Diseases related with Hepatomegaly and Long philtrum

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

Top matches:

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Other less relevant matches:

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

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 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

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

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Thin upper lip vermilion Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Epicanthus Global developmental delay Depressed nasal bridge Smooth philtrum Joint stiffness Nystagmus Short stature Growth delay Brachydactyly Wide nasal bridge Pneumonia Thrombocytopenia Respiratory failure Intrauterine growth retardation Seizures

Rare Symptoms - Less than 30% cases

Flat occiput Microcephaly Cataract Sleep apnea Talipes equinovarus Posteriorly rotated ears Intellectual disability Protuberant abdomen Frontal bossing Wide anterior fontanel Short neck Cholestasis Large fontanelles Hypothyroidism Macrocephaly Respiratory tract infection Hearing impairment Hepatosplenomegaly Coarse facial features Recurrent respiratory infections Recurrent infections Limb undergrowth Intellectual disability, mild Hoarse voice High palate Small hand Delayed skeletal maturation Full cheeks Short foot Short palm Anteverted nares Dyspnea Mitral regurgitation Short nose Respiratory insufficiency Elevated hepatic transaminase Hypoplastic vertebral bodies Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Scoliosis Pain Cognitive impairment Synophrys Hypoplastic ischia Abnormality of metabolism/homeostasis Inguinal hernia Attention deficit hyperactivity disorder Hypoalbuminemia Abdominal pain Hyperactivity Developmental regression Prominent forehead Vertebral hypoplasia Tachypnea Diarrhea Pancreatic cysts Pancreatic hypoplasia Splenic cyst Failure to thrive Cryptorchidism Anemia Ventricular septal defect Severe platyspondyly Squared iliac bones Abnormally ossified vertebrae Vomiting Patent ductus arteriosus Joint hypermobility Camptodactyly Abnormal cardiac septum morphology Hepatic failure Pulmonary hypoplasia Ascites Decreased fetal movement Hypoplastic pubic bone Lymphedema Decreased liver function Anterior rib cupping Abnormal intestine morphology Renal phosphate wasting Low posterior hairline High, narrow palate Tapered finger Edema Pectus excavatum Severe short stature Polyhydramnios Skeletal dysplasia Wide mouth Platyspondyly Narrow chest Micromelia Metaphyseal irregularity Expressive language delay Prominent supraorbital ridges Relative macrocephaly Short long bone Short metacarpal Blue sclerae Abnormality of the metaphysis Disproportionate short-limb short stature Recurrent pneumonia Broad thumb Rhizomelia Muscular hypotonia Spinal deformities Metaphyseal cupping Hypoplastic nipples Flat acetabular roof Macroglossia Memory impairment Abnormality of epiphysis morphology Generalized hirsutism Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Episodic abdominal pain Hypophosphatemia Delayed epiphyseal ossification Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Bell-shaped thorax Long hallux Sagittal craniosynostosis Cystic renal dysplasia Diabetes mellitus Buphthalmos Organic aciduria Peripheral neuropathy Respiratory distress Encephalopathy Babinski sign Acidosis Hypoglycemia Lactic acidosis Increased serum lactate Wide intermamillary distance Progressive microcephaly Rotary nystagmus Pulmonary artery stenosis Increased serum pyruvate Feeding difficulties High forehead Jaundice Talipes Flat face Polymicrogyria Severe muscular hypotonia Bilateral talipes equinovarus Epiphyseal stippling Subglottic stenosis Epiphyseal dysplasia Generalized neonatal hypotonia Megakaryocyte dysplasia Micrognathia Ptosis Syndactyly Clinodactyly Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Mitral valve prolapse Thickened skin Pulmonary arterial hypertension Aortic valve stenosis Cone-shaped epiphysis Toe walking Ovoid vertebral bodies Mitral stenosis Apnea Bulbous nose Thick vermilion border Round face Cardiorespiratory arrest Strabismus Esophageal varix Sepsis Hernia Glaucoma Osteopenia Umbilical hernia Abnormality of the kidney Hyperlordosis Craniosynostosis Abnormality of the liver Cirrhosis Renal cyst Hepatitis Abnormality of the skeletal system Bilateral sensorineural hearing impairment Choanal atresia Hepatic fibrosis Polycystic kidney dysplasia Portal hypertension Congenital glaucoma Congenital hypothyroidism Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Atrial septal defect Hypertension Visual impairment Recurrent bacterial infections Motor delay Immunodeficiency Upslanted palpebral fissure Reduced visual acuity Retrognathia Photophobia Conductive hearing impairment Carious teeth Neutropenia Hip dysplasia Albinism Sensorineural hearing impairment Pulmonary fibrosis Periodontitis Ocular albinism Fair hair Acetabular dysplasia Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Posterior rib cupping


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Pectus carinatum, related diseases and genetic alterations Hepatomegaly and Progressive hearing impairment, related diseases and genetic alterations