Congestive heart failure, and Pancytopenia

Diseases related with Congestive heart failure and Pancytopenia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Pancytopenia that can help you solving undiagnosed cases.


Top matches:

Medium match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

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Other less relevant matches:

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


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). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Medium match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Pancytopenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Pancytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Interstitial pulmonary abnormality Strabismus Hepatomegaly Hepatosplenomegaly Pallor Fatigue Anorexia Growth delay Diarrhea Lymphadenopathy Short stature Lethargy Recurrent respiratory infections Edema Supranuclear gaze palsy Exertional dyspnea Decreased beta-glucocerebrosidase protein and activity Decreased body weight Corneal opacity Syncope Arthritis Cardiac valve calcification Neutropenia Microcephaly Clubbing Oculomotor apraxia Intellectual disability Proteinuria Dyspnea Portal hypertension Osteolysis Ophthalmoplegia Leukopenia Pulmonary arterial hypertension Dementia Hearing impairment Hematuria Scoliosis Vomiting Menorrhagia Abnormality of the thorax Malabsorption Cholelithiasis Spontaneous hematomas Hepatocellular carcinoma Petechiae Hemolytic anemia Cataract Hydrops fetalis Visual impairment Multiple myeloma Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Diabetes mellitus Increased antibody level in blood Bone pain Nystagmus Retinal degeneration Cirrhosis Kyphosis Delayed skeletal maturation Myoclonus Abdominal pain Osteopenia Abnormality of eye movement Hematological neoplasm Erlenmeyer flask deformity of the femurs Spasticity Depressivity Progressive neurologic deterioration Hydrocephalus Hypertonia Respiratory distress Ascites Orthopnea Epistaxis Cyanosis Generalized myoclonic seizures Abnormal bleeding Renal insufficiency

Rare Symptoms - Less than 30% cases


Atrial septal defect Dysphagia Aciduria Dystonia Headache Generalized lymphadenopathy Paresthesia Hepatic failure Cor pulmonale Gastroesophageal reflux Fever Ventricular septal defect Immune dysregulation Cough Abnormal heart morphology Abnormal cardiac septum morphology Gastritis Horizontal supranuclear gaze palsy Aseptic necrosis Pulmonary fibrosis Increased susceptibility to fractures Myopia Osteoporosis Delayed puberty Generalized hypotonia Abnormal facial shape Tremor Abdominal distention Weight loss Difficulty walking Mental deterioration Encephalopathy Feeding difficulties in infancy Nausea Glaucoma Abnormality of the skin Abnormality of skin pigmentation Abnormality of coagulation Intrauterine growth retardation Flexion contracture Pericardial effusion Motor delay Protuberant abdomen Increased serum ferritin Megaloblastic anemia Macrocytic anemia Vertebral compression fractures Myelodysplasia Abnormal myocardium morphology Cardiac arrest Increased bone mineral density Hypoglycemia Rigidity Aortic valve calcification Bulbar palsy Slow saccadic eye movements Hypothyroidism Restrictive deficit on pulmonary function testing Slowed horizontal saccades Mitral valve calcification Abnormal saccadic eye movements Abnormal heart valve morphology Optic atrophy Heart murmur Retinopathy Unsteady gait Pigmentary retinopathy Generalized tonic-clonic seizures Bilateral sensorineural hearing impairment Abnormal retinal morphology Cardiomyopathy Hyperglycemia Opisthotonus Bronchiectasis Purpura Hypertension Muscle weakness Inflammation of the large intestine Sensorineural hearing impairment Abnormal lung morphology Subcutaneous nodule Hyperpigmentation of the skin Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Maculopapular exanthema Abnormal salivary gland morphology Anterior uveitis Enlarged lacrimal glands Dacryocystitis Axial dystonia Chorioretinitis Abnormality of the adrenal glands Abducens palsy Subcutaneous hemorrhage Decreased liver function Nephrocalcinosis Abnormality of the nasal mucosa Nephrolithiasis Histiocytosis Eclabion Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal pattern of respiration Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Hemophagocytosis Vitritis Abnormality of T cell physiology Hypoxemia Enlargement of parotid gland Posterior vitreous detachment Skin plaque Abnormality of skin morphology Abnormal reproductive system morphology Abnormality of the lymph nodes Cystoid macular edema Erythema nodosum Giant cell hepatitis Hemoptysis Keratoconjunctivitis sicca Hyperuricemia Hyperthyroidism Abnormality of the musculature Elevated erythrocyte sedimentation rate Chorioretinal atrophy Blurred vision CSF pleocytosis Laryngeal stridor Emphysema Ventricular tachycardia Diabetes insipidus Epiphora Eosinophilia Pleural effusion Hypercalciuria Optic neuropathy Uveitis Abnormality of the cerebrospinal fluid Abnormal platelet aggregation Hypercalcemia Intestinal bleeding Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Vitreous snowballs Joint swelling Bone cyst Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Skin nodule Bulbar signs Pulmonary granulomatosis Jaundice Esodeviation Abnormal thrombosis Abnormality of ion homeostasis Periorbital edema Abnormality of the acoustic reflex Sleep myoclonus Polyhydramnios Umbilical hernia Elevated hepatic transaminase Astrocytosis Apnea Developmental regression Irritability Pulmonary hypoplasia Edema of the lower limbs Brain atrophy Bipolar affective disorder Gingival bleeding Decreased fetal movement Hypersplenism Protein-losing enteropathy Cholestasis Lymphopenia Abnormal pyramidal sign Gait disturbance Neurodegeneration Progressive cerebellar ataxia Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Intention tremor Hypoalbuminemia Fractures of the long bones Abnormal platelet function Arthralgia of the hip Flank pain Restrictive ventilatory defect Abnormality of bone marrow cell morphology Lower limb hyperreflexia Abnormality of the sternum Thoracic kyphosis Hypercoagulability Pathologic fracture Thickened skin Abnormal trabecular meshwork morphology Neurological speech impairment Parkinsonism Congenital ichthyosiform erythroderma Poor eye contact Atrophy/Degeneration affecting the brainstem Bruising susceptibility Limb hypertonia Epileptic spasms Aspiration pneumonia Abnormality of the eye Abnormality of the cardiovascular system EEG abnormality Fetal akinesia sequence Hypomagnesemia Aggressive behavior Trismus Nonimmune hydrops fetalis Congenital nonbullous ichthyosiform erythroderma Abnormality of the larynx Cognitive impairment Hypokinesia Apraxia Progressive microcephaly Poor suck Aspiration Elbow flexion contracture Osteomyelitis Hypocalcemia Knee flexion contracture Hyperbilirubinemia Hyperammonemia Leukocytosis Reduced bone mineral density Athetosis Intracranial hemorrhage Spastic paraparesis Meningitis Bilateral ptosis Ectropion Hepatic fibrosis Hyponatremia Osteoarthritis Akinesia Palpitations Hepatic steatosis Sudden cardiac death Conjunctivitis Chronic lung disease Exocrine pancreatic insufficiency Autoimmune thrombocytopenia Fatigable weakness IgA deficiency Recurrent sinusitis Autoimmune hemolytic anemia Colitis Combined immunodeficiency Recurrent upper respiratory tract infections Abnormal intestine morphology Type I diabetes mellitus Villous atrophy Chronic diarrhea Recurrent otitis media Inflammatory abnormality of the skin Otitis media Decreased antibody level in blood Lymphoma Asthma Autoimmunity Respiratory tract infection Respiratory failure Pneumonia Clubbing of fingers Brain neoplasm Immunodeficiency Cone/cone-rod dystrophy Cleft palate Micrognathia Hypertelorism Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Secondary amenorrhea Polycystic ovaries Aminoaciduria Verrucae Hoarse voice Situs inversus totalis Amenorrhea Polyneuropathy Retinal dystrophy Stroke Visual loss Cryptorchidism Burkitt lymphoma Follicular hyperplasia Interstitial pneumonitis IgM deficiency Recurrent infections Neoplasm Downslanted palpebral fissures Bundle branch block Brachycephaly Pes cavus Hyporeflexia Abnormal chorioretinal morphology Left bundle branch block Abnormality of lipid metabolism Retinal atrophy Glomerulopathy Progressive sensorineural hearing impairment Macular dystrophy Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Cardiomegaly Constriction of peripheral visual field Ragged-red muscle fibers External ophthalmoplegia Type II diabetes mellitus Vertigo Abnormality of the kidney Hypertrophic cardiomyopathy Myalgia Constipation Myopathy Dysarthria Ptosis Dry skin Ventricular hypertrophy Cardiovascular calcification Reticular hyperpigmentation Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Abnormality of toe Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Corneal crystals Abnormal aortic morphology Mitral regurgitation Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Communicating hydrocephalus Mitral stenosis Abnormal EKG Cachexia Aortic regurgitation Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis High palate Short neck Chest pain Atherosclerosis Hemolytic-uremic syndrome Right ventricular failure Myelopathy Homocystinuria Methylmalonic aciduria Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Slurred speech Abnormality of retinal pigmentation Methylmalonic acidemia Recurrent urinary tract infections Broad-based gait Psychosis Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Metabolic acidosis Nephropathy Joint hypermobility Long face Confusion Smooth philtrum Atrophy of the spinal cord Chronic hemolytic anemia Congenital cataract Pain Hypopigmentation of the skin Papule Scarring Erythema Facial palsy Proximal muscle weakness Photophobia Alopecia Blindness Skeletal muscle atrophy Peripheral neuropathy Thyroglossal cyst Abnormality of macular pigmentation Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Lower limb muscle weakness Hip dislocation Retrognathia Abnormality of the hand Osteosarcoma Hypoplastic ilia Thrombocytosis Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Hypoplasia of the radius Aplastic anemia Abnormal dermatoglyphics Bone marrow hypocellularity Short thumb Depressed nasal ridge Coarctation of aorta Webbed neck Premature birth Cleft upper lip Nausea and vomiting Narrow chest Leukemia Cleft lip 11 pairs of ribs Increased mean corpuscular volume Macrotia Hypoplastic coccygeal vertebrae High forehead Acidosis Reduced visual acuity Gait ataxia Cerebral cortical atrophy Intellectual disability, severe Respiratory insufficiency Feeding difficulties Low-set ears Muscular hypotonia Hypoplastic sacral vertebrae Transient erythroblastopenia Anemia of inadequate production Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia EEG with temporal sharp waves



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