Low-set ears, and Thrombocytopenia

Diseases related with Low-set ears and Thrombocytopenia

In the following list you will find some of the most common rare diseases related to Low-set ears and Thrombocytopenia that can help you solving undiagnosed cases.

Top matches:

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

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

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).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

Other less relevant matches:

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Thrombocytopenia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Thrombocytopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neutropenia Abnormal facial shape Pancytopenia Hepatomegaly Seizures Microcephaly Feeding difficulties Generalized hypotonia Short stature

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Abnormality of the kidney Ventriculomegaly Hydrocephalus Hepatosplenomegaly Neurodevelopmental delay Absent radius Respiratory tract infection Hydronephrosis Small for gestational age High palate Leukopenia Splenomegaly Patent ductus arteriosus Rhizomelia Pyloric stenosis Abnormality of the skeletal system Finger syndactyly Diarrhea Recurrent infections Pneumonia Intellectual disability Hypertelorism Micrognathia Genu varum Hypertonia Prolonged partial thromboplastin time Lymphocytosis CSF lymphocytic pleiocytosis Depressed nasal bridge Prolonged prothrombin time Edema Ventricular septal defect Atrial septal defect Atrophy/Degeneration affecting the brainstem Mild global developmental delay Wide mouth Severe failure to thrive Short philtrum Synophrys Facial paralysis Muscle stiffness Normocytic anemia Severe global developmental delay Cerebellar atrophy Cerebral atrophy Respiratory insufficiency Encephalopathy Tremor Cirrhosis Apnea Paralysis Pruritus Subglottic stenosis Spasticity Hyperechogenic pancreas Convex nasal ridge Cerebral calcification Progressive microcephaly Leukodystrophy Bradycardia Dystonia Laryngeal cleft Elevated hepatic transaminase Situs inversus totalis Thin vermilion border Adducted thumb High forehead Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Broad forehead Hip dislocation Tetralogy of Fallot Broad thumb Horseshoe kidney Coxa valga Abnormality of the genitourinary system Abnormality of coagulation Cleft palate Patellar dislocation Fused cervical vertebrae Aplasia of the uterus Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Clinodactyly of the 5th finger Sensorineural hearing impairment Triangular face Deep philtrum Abnormal bleeding Asthma Oligohydramnios Coarctation of aorta Telangiectasia Hepatic fibrosis Wide anterior fontanel Decreased liver function Hydrops fetalis Metaphyseal dysplasia Cutis laxa Poor suck Scoliosis Patent foramen ovale Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Exocrine pancreatic insufficiency Homocystinuria Steatorrhea Abdominal distention Absent thumb Esophageal atresia Abnormal lung lobation Chromosome breakage Abnormality of chromosome stability Peripheral neuropathy Downslanted palpebral fissures Vomiting Smooth philtrum Intestinal malrotation Tracheoesophageal fistula Aganglionic megacolon Intestinal obstruction Spastic diplegia Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible External genital hypoplasia Bone marrow hypocellularity Cataract Long philtrum Abnormality of the pinna Nail dysplasia Recurrent otitis media Chronic diarrhea Recurrent bacterial infections Myelodysplasia Fragile nails Myelofibrosis Ptosis Syndactyly Abnormal vertebral morphology Clinodactyly Abnormality of the cardiovascular system Trigonocephaly Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Neoplasm Anal atresia Renal agenesis Renal dysplasia Hearing impairment Cardiomyopathy Mild short stature Megaloblastic bone marrow Macrocytic anemia Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Methylmalonic acidemia Glossitis Hyperhomocystinemia Decreased methylcobalamin Decreased adenosylcobalamin Incoordination Decreased methionine synthase activity Cystathioninuria Cystathioninemia Myopia Constipation High myopia Severe muscular hypotonia Laryngomalacia Metaphyseal widening Metaphyseal irregularity Rheumatoid arthritis Psychosis Midface retrusion Ataxia Dry skin Eczema Choanal atresia Gingival overgrowth Lymphopenia Recurrent upper respiratory tract infections Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Muscular hypotonia Abnormality of the skin Epicanthus Abnormal heart morphology Acidosis Thin upper lip vermilion Arthritis Developmental regression Skin rash Microtia Lethargy Aciduria Axial malrotation of the kidney


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