Hypertelorism, and Splenomegaly

Diseases related with Hypertelorism and Splenomegaly

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

Top matches:

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Other less relevant matches:

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

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

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

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

High match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

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

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 Hypertelorism and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Depressed nasal bridge Short nose Frontal bossing Mandibular prognathia Abnormal facial shape Respiratory tract infection Coarse facial features Hepatosplenomegaly Generalized hypotonia Patent ductus arteriosus Atrial septal defect Wide nasal bridge Joint stiffness Edema

Rare Symptoms - Less than 30% cases

Failure to thrive Respiratory failure Wide anterior fontanel Hypertension Hypertrophic cardiomyopathy Large fontanelles Macrocephaly Epicanthus High palate Cognitive impairment Low-set ears Inguinal hernia Scoliosis Cardiomyopathy Carious teeth Anemia Respiratory insufficiency Microcephaly Hypogonadism Recurrent pneumonia Dysostosis multiplex Long philtrum Jaundice Hepatic failure Ventricular septal defect Synophrys Delayed skeletal maturation Sleep disturbance Abnormality of the liver Hematuria Malabsorption Neutropenia Muscular hypotonia Macroglossia Behavioral abnormality Umbilical hernia Hyperactivity Protuberant abdomen Micrognathia Portal hypertension Cerebral atrophy Blindness Nephrotic syndrome Cerebral cortical atrophy Ascites Thin vermilion border Areflexia Intrauterine growth retardation Flexion contracture Cerebellar atrophy Nephropathy Heart murmur Axenfeld anomaly Broad forehead Cyanosis Triangular face Renal cyst Cirrhosis Pulmonic stenosis Pruritus Stroke Tetralogy of Fallot Retinopathy Abnormal cardiac septum morphology Scarring Proteinuria Acidosis Abnormal heart morphology Renal insufficiency Pigmentary retinopathy Coarctation of aorta Dark urine Posterior embryotoxon Butterfly vertebrae Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Pulmonary artery stenosis Poor coordination Exocrine pancreatic insufficiency Renal tubular acidosis Renal hypoplasia Long nose Abnormality of immune system physiology Rickets Pointed chin Increased body weight Renal dysplasia Cholestasis Abnormality of coagulation Abnormal vertebral morphology Nonimmune hydrops fetalis Metaphyseal irregularity Small hand Short foot Tapered finger Short metacarpal Limb undergrowth Blue sclerae Abnormality of the metaphysis Broad thumb Abnormality of epiphysis morphology Rhizomelia Disproportionate short-limb short stature Short long bone Relative macrocephaly Prominent supraorbital ridges Flat occiput Micromelia Hypophosphatemia Bell-shaped thorax Delayed epiphyseal ossification Flat acetabular roof Metaphyseal cupping Renal phosphate wasting Hypoplastic ischia Hypoplastic vertebral bodies Vertebral hypoplasia Anterior rib cupping Hypoplastic pubic bone Abnormally ossified vertebrae Squared iliac bones Severe platyspondyly Short palm Narrow chest Type I transferrin isoform profile Abnormality of the ulna Abnormality of the amniotic fluid Budd-Chiari syndrome Delayed speech and language development Abnormality of the dentition Pes planus Arthritis Pectus carinatum Microtia Neurological speech impairment Thick vermilion border Dyskinesia Gingival overgrowth Chronic otitis media Thickened calvaria Macroorchidism Platyspondyly Anteverted nares Wide mouth Skeletal dysplasia Polyhydramnios Severe short stature Pectus excavatum Short neck Brachydactyly Beaking of vertebral bodies Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Vascular skin abnormality Large face Abnormal cortical bone morphology Abnormality of the skeletal system Motor delay Cellular metachromasia Increased antibody level in blood Pneumonia Hyperkeratosis Skin rash Cough Nail dystrophy Palmoplantar keratoderma Asthma Otitis media Eczema Cutaneous photosensitivity Recurrent otitis media Conjunctivitis Myelodysplasia Atrophic scars Midface retrusion Wheezing Blepharitis Osteosarcoma Poikiloderma Subungual hyperkeratosis Pain Intellectual disability, mild Abnormality of metabolism/homeostasis Prominent forehead Abdominal pain Thin upper lip vermilion Elevated hepatic transaminase Developmental regression Alopecia Malar flattening Smooth philtrum Aciduria Hypospadias Micropenis Hydrops fetalis Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Normochromic anemia Congenital hypoplastic anemia Erythroid hyperplasia Downslanted palpebral fissures Immunodeficiency Low-set, posteriorly rotated ears Hip dysplasia Cataract Meningitis Aminoaciduria Abnormality of the ureter Abnormal toenail morphology Anisocytosis Megaloblastic anemia Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Attention deficit hyperactivity disorder Joint hypermobility Dense calvaria Kyphoscoliosis Azoospermia Sacral dimple Anosmia Preauricular pit External ear malformation Abnormality of the hypothalamus-pituitary axis Spherocytosis Supernumerary ribs Hearing impairment Dysphagia Diarrhea Hernia Rod-cone dystrophy Dolichocephaly Hypoplasia of penis Hirsutism Everted lower lip vermilion Hypertrichosis Growth abnormality Coarse hair Recurrent upper respiratory tract infections Restlessness Loss of speech Motor deterioration Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Hypogonadotrophic hypogonadism Mitral valve prolapse High, narrow palate Periorbital fullness Memory impairment Low posterior hairline Hoarse voice Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Episodic abdominal pain Upper airway obstruction Prolonged partial thromboplastin time Abnormality of the mitochondrion Microcornea Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Growth delay Nystagmus Cryptorchidism Feeding difficulties Talipes equinovarus Upslanted palpebral fissure Blepharophimosis Iris coloboma Hemolytic anemia Retinal dystrophy Posterior rib cupping


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