Brachydactyly, and Myeloid leukemia

Diseases related with Brachydactyly and Myeloid leukemia

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

Top matches:

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT

Other less relevant matches:

Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

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

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Brachydactyly and Myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Growth delay Microcephaly Abnormal heart morphology Ventricular septal defect Epicanthus Global developmental delay Seizures Hearing impairment Depressed nasal bridge Hypertelorism Abnormality of cardiovascular system morphology Sparse hair Abnormal cardiac septum morphology Webbed neck Pectus excavatum High palate Atrial septal defect Ptosis Cryptorchidism Cataract Micrognathia Coarctation of aorta Lymphoma Pancytopenia Generalized hypotonia Scoliosis Short thumb Pain Bone marrow hypocellularity Intrauterine growth retardation Cleft palate Hydrocephalus

Rare Symptoms - Less than 30% cases

Absent thumb Edema Neutropenia Wide mouth Short neck Downslanted palpebral fissures Myopia Failure to thrive Feeding difficulties Reticulocytopenia Cognitive impairment Duplicated collecting system Congestive heart failure Delayed cranial suture closure Cleft upper lip Nystagmus Abnormal dermatoglyphics Vomiting Depressed nasal ridge Hydronephrosis Hypotrichosis Abnormality of the kidney Toe syndactyly Tetralogy of Fallot Cutis marmorata Myelodysplasia Bicuspid aortic valve Fine hair Acute myeloid leukemia Bruising susceptibility Pulmonic stenosis Muscular hypotonia Polydactyly Syndactyly Postnatal growth retardation Low-set, posteriorly rotated ears Abnormality of the dentition Clinodactyly of the 5th finger Microphthalmia Patent ductus arteriosus Delayed skeletal maturation Brachycephaly Abnormality of skin pigmentation Short foot Dilatation Premature birth Hypertension Neuroblastoma Joint hyperflexibility Gastroesophageal reflux Ventriculomegaly Abnormality of the skeletal system Frontal bossing Osteoarthritis Acute lymphoblastic leukemia Arthralgia Flexion contracture Cleft lip Abnormality of the nervous system Conductive hearing impairment Prominent nasal bridge Small nail Pulmonary arterial hypertension Nail dysplasia Esotropia Osteopenia Gastrointestinal hemorrhage EEG abnormality Ascites Short distal phalanx of finger Polymicrogyria Sacral dimple Talipes Aplasia/Hypoplasia of the corpus callosum Finger syndactyly Cirrhosis Split hand Hemiparesis Cortical dysplasia Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Spina bifida occulta Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Hypoplastic left heart Alopecia Supernumerary nipple Sandal gap Portal hypertension Abnormality of the metacarpal bones Leukopenia Meningitis Aortic valve stenosis Telangiectasia Pachygyria Encephalocele Cerebellar hypoplasia Metatarsus adductus Hypoplastic toenails Sparse lateral eyebrow Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Thrombocytosis Macrocytic anemia Rectal prolapse Parietal foramina Vertebral fusion Colon cancer Congenital glaucoma Abnormality of neutrophils Triphalangeal thumb Abnormality of the hand Hypoplasia of the radius Abnormality of female external genitalia Unilateral cleft lip Congenital hypoplastic anemia Hypertonia Elevated red cell adenosine deaminase activity Hypoplasia of the corpus callosum Abnormality of the lower limb Talipes equinovarus Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Aplasia/Hypoplasia of the thumb Bifid thoracic vertebrae Hypoplastic anemia Everted upper lip vermilion Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Submucous cleft hard palate Underdeveloped supraorbital ridges Anal stenosis Partial duplication of thumb phalanx Hypoparathyroidism Abnormality of the antihelix Arteriovenous malformation Keratitis Hypoplastic fingernail Aplasia/Hypoplasia of the nipples Transposition of the great arteries Increased number of teeth Hypoplastic nipples Acute leukemia Long foot Hip dislocation Corneal opacity Retinal coloboma Peripheral pulmonary artery stenosis Short philtrum Short palm Ureteropelvic junction obstruction Aplastic clavicle Clubbing of toes Aplasia/Hypoplasia of the phalanges of the hand Pulmonary valve atresia Coloboma Violent behavior Aplasia/Hypoplasia of the phalanges of the toes Low-set nipples Respiratory insufficiency Ichthyosis Thick vermilion border Hypospadias Osteolysis Large hands Erythroderma Overfolded helix Brittle hair Growth abnormality Recurrent skin infections Palmoplantar hyperkeratosis Abnormality of the outer ear Widely spaced teeth Skin ulcer Decreased fertility Joint contracture of the hand Abnormality of epiphysis morphology Tall stature Broad-based gait Large for gestational age Thick lower lip vermilion Microdontia Ectodermal dysplasia Bifid uvula Hypodontia Recurrent infections Telecanthus Abnormality of the fingernails Absent fingernail Chronic diarrhea Imperforate hymen Wide anterior fontanel Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Narrow face Absent hand Acrania Low anterior hairline Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Abnormality of dental morphology Broad thumb Sparse scalp hair Protruding ear Small hand Erythema Camptodactyly Craniosynostosis Blepharophimosis Attention deficit hyperactivity disorder Malabsorption Autism Dry skin Hyperkeratosis Delayed eruption of teeth Cutaneous photosensitivity Cerebral cortical atrophy Upslanted palpebral fissure Prominent forehead Asthma Cerebral atrophy Eczema Wide nasal bridge Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Sloping forehead Pulmonary artery atresia Broad hallux Hydrops fetalis Abnormality of femur morphology Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Central apnea Obstructive lung disease Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Cervical myelopathy Hypopnea Disproportionate short stature Low-set ears Rod-cone dystrophy Constipation Clinodactyly Hernia Headache Splenomegaly Intellectual disability, mild Cardiomyopathy Fever Abnormal facial shape Cervical cord compression Sensorineural hearing impairment Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hip contracture Tibial bowing Hypogonadism Apnea Lumbar hyperlordosis Overgrowth Otitis media Sleep disturbance Oral cleft Confusion Micromelia Scarring Hyperlordosis Rigidity Tetraparesis Skeletal dysplasia Weight loss Severe short stature Obesity Midface retrusion Malar flattening Macrocephaly Hyperreflexia Motor delay Delayed speech and language development Epidermal acanthosis Recurrent otitis media Limited elbow extension Disproportionate short-limb short stature Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Short long bone Abnormal form of the vertebral bodies Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Posteriorly rotated ears Abdominal pain Nausea Nasogastric tube feeding Mild short stature Adducted thumb Postaxial polydactyly Duplication of thumb phalanx Refractory anemia Preaxial hand polydactyly Facial palsy Postductal coarctation of the aorta Preductal coarctation of the aorta Reduced factor XIII activity Patellar dislocation Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Abnormality of digit Lymphoproliferative disorder Optic disc hypoplasia Chromosomal breakage induced by crosslinking agents Nausea and vomiting Narrow chest Lethargy Pallor Retrognathia Glaucoma Fatigue Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Complete duplication of thumb phalanx Chronic lymphatic leukemia Absent radius Ectopic kidney Horseshoe kidney Hypergonadotropic hypogonadism Cafe-au-lait spot Hypotelorism Renal agenesis Small for gestational age Short 2nd finger T-cell lymphoma Lymphangioma Asymmetry of the thorax Proptosis Amenorrhea Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Wide intermamillary distance Poor suck Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Facial asymmetry Broad forehead Hypertrophic cardiomyopathy Kyphoscoliosis Polyhydramnios Arnold-Chiari malformation Pterygium Multiple lentigines Abnormality of blood and blood-forming tissues Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of the vertebral column Elevated alkaline phosphatase Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Abnormality of thumb phalanx


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