Hypertelorism, and Hemolytic anemia

Diseases related with Hypertelorism and Hemolytic anemia

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

Top matches:

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Other less relevant matches:

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Anemia
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 8; DBA8

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

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

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Top 5 symptoms//phenotypes associated to Hypertelorism and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Atrial septal defect Intellectual disability Failure to thrive High palate Hepatomegaly Abnormal facial shape Patent ductus arteriosus Depressed nasal bridge Micrognathia Short neck Ventricular septal defect Hypoplasia of the corpus callosum Epicanthus

Rare Symptoms - Less than 30% cases

Macrocytic anemia Macrocephaly Posteriorly rotated ears Neoplasm Obesity Intrauterine growth retardation Short nose Seborrheic dermatitis Postnatal growth retardation Splenomegaly Upslanted palpebral fissure Hypocalcemia Hypoparathyroidism Blepharophimosis Iris coloboma Wide nasal bridge Flexion contracture Tetany Small for gestational age Cleft palate Hearing impairment Generalized hypotonia Low-set ears Immunodeficiency Hypertonia Hypospadias Abnormality of eye movement Erythroid hypoplasia Cerebral atrophy Retrognathia Muscular hypotonia of the trunk Neonatal hypotonia Cirrhosis Abnormality of cardiovascular system morphology Reticulocytopenia Increased mean corpuscular volume Wide nose Narrow mouth Micropenis Right aortic arch Alcoholism Parathyroid agenesis Type I truncus arteriosus Parathyroid hypoplasia Impaired T cell function Decreased circulating parathyroid hormone level Sacral meningocele Right aortic arch with mirror image branching Perisylvian polymicrogyria Duodenal stenosis Accommodative esotropia Retinal vascular tortuosity Abnormality of the middle ear Esophoria Abnormality of the thymus Vascular tortuosity Conotruncal defect Perimembranous ventricular septal defect Aplasia of the thymus Arteria lusoria Femoral hernia Dystonia Interrupted aortic arch Short palpebral fissure Purpura Spina bifida Exotropia Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Low posterior hairline Schizophrenia Coarctation of aorta Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Chorea Bifid uvula High, narrow palate Bicuspid aortic valve Arnold-Chiari malformation Graves disease Bipolar affective disorder Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Juvenile rheumatoid arthritis Myelomeningocele Truncus arteriosus Sclerocornea Vitiligo Posterior embryotoxon Nasal speech Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Meningocele Hydrops fetalis Neutropenia Delayed closure of the anterior fontanelle Thin clavicles Birth length less than 3rd percentile Hypocalcemic tetany Hypocalcemic seizures Long clavicles Generalized tonic seizures Decreased skull ossification Congenital hypoparathyroidism Hypomagnesemia Severe postnatal growth retardation Proportionate short stature Thin ribs Slender long bone Delayed cranial suture closure Recurrent bacterial infections Cortical thickening of long bone diaphyses Thin long bone diaphyses Short foot Acute myeloid leukemia Embryonal neoplasm Medulloblastoma Acute monocytic leukemia Aplastic anemia Chromosome breakage Neuroblastoma Nephroblastoma Stenosis of the medullary cavity of the long bones Bone marrow hypocellularity Hyperpigmentation of the skin Cafe-au-lait spot Short thumb Anal atresia Leukemia Calvarial osteosclerosis Full cheeks Small hand Thick upper lip vermilion Reticulocytosis Diarrhea Erythroid hyperplasia Congenital hypoplastic anemia Normochromic anemia Fetal distress Anemia of inadequate production Hyperbilirubinemia Abnormality of the liver Wide anterior fontanel Bulbous nose Hypertrophic cardiomyopathy Edema Cardiomyopathy Leukopenia Pure red cell aplasia Prominent forehead Sparse hair Short palm Bloody diarrhea Carious teeth Delayed skeletal maturation Decreased serum iron Uncombable hair Pili canaliculi Intractable diarrhea Chronic hepatitis Hypochromic microcytic anemia Hepatitis Trichorrhexis nodosa Villous atrophy Woolly hair Microcytic anemia Colitis Brittle hair Chronic diarrhea Polymicrogyria Inguinal hernia Astigmatism Azoospermia Spherocytosis Abnormality of the hypothalamus-pituitary axis External ear malformation Preauricular pit Anosmia Sacral dimple Hypogonadotrophic hypogonadism Dysarthria Hypoplasia of penis Mitral valve prolapse Microcornea Retinal dystrophy Hypogonadism Optic atrophy Ventriculomegaly Supernumerary ribs Spasticity Respiratory insufficiency Cerebellar hypoplasia Apnea Abnormality of the eye Coarse facial features Polyhydramnios Respiratory failure Cerebral cortical atrophy Myoclonus Pneumonia Hyperreflexia Encephalopathy Absent speech Malar flattening Long philtrum Cerebellar atrophy Ataxia Anteverted nares Talipes equinovarus Feeding difficulties Wide mouth Lactic acidosis Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Increased serum lactate Coma Metabolic acidosis Unsteady gait Trigonocephaly Spastic paraplegia Severe global developmental delay Thin upper lip vermilion Acidosis Agenesis of corpus callosum Pectus excavatum Dilatation Broad-based gait Spastic diplegia Cryptorchidism Decreased activity of the pyruvate dehydrogenase complex Respiratory distress Nystagmus Vomiting Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Hyperalaninemia Partial agenesis of the corpus callosum Increased serum pyruvate Poor fine motor coordination Severe lactic acidosis Corpus callosum atrophy Poor coordination Lipoma Difficulty running Developmental regression Stroke Generalized tonic-clonic seizures Birth length greater than 97th percentile Delayed speech and language development Cognitive impairment Ptosis Strabismus Scoliosis Abnormality of the pons Olfactory lobe agenesis Hydrocephalus Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Breech presentation Developmental stagnation Fever Behavioral abnormality Cardiorespiratory arrest Cleft lip Microtia Short philtrum Attention deficit hyperactivity disorder Autoimmunity Craniosynostosis Abnormality of the pinna Abnormality of the kidney Telecanthus Microphthalmia Arthritis Hydronephrosis Umbilical hernia Hypothyroidism Abnormal heart morphology Thrombocytopenia Recurrent infections High anterior hairline Pierre-Robin sequence Ichthyosis Webbed neck Generalized-onset seizure Limb undergrowth Overgrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Vesicoureteral reflux Small nail Delayed myelination Gliosis Sepsis Generalized myoclonic seizures Downturned corners of mouth Short distal phalanx of finger Hepatic failure Hypsarrhythmia Inflammatory abnormality of the skin Epileptic spasms Redundant skin Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Large for gestational age Overfolded helix Scaling skin Elevated alkaline phosphatase Large fontanelles Deep philtrum Widely spaced teeth Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Chromosomal breakage induced by crosslinking agents


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