Brachydactyly, and Thrombocytopenia

Diseases related with Brachydactyly and Thrombocytopenia

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


Top matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


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

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Other less relevant matches:

Low match ADAMS-OLIVER SYNDROME


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 DUBOWITZ 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

Low match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match NOONAN SYNDROME 1; NS1


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

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Thrombocytopenia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Short neck

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus High palate Epicanthus Sparse hair Clinodactyly Ventricular septal defect Postnatal growth retardation Micrognathia Neoplasm Microphthalmia Abnormal heart morphology Hearing impairment Leukemia Nystagmus Hydrocephalus Atrial septal defect Polyhydramnios Proptosis Brachycephaly Clinodactyly of the 5th finger Talipes equinovarus Anemia Downslanted palpebral fissures Myopia Intrauterine growth retardation Hydronephrosis Pectus excavatum Low-set, posteriorly rotated ears Craniosynostosis Sandal gap Coarctation of aorta Acute lymphoblastic leukemia Ptosis Prominent nasal bridge Delayed skeletal maturation Aortic valve stenosis Cafe-au-lait spot Depressed nasal bridge Cleft upper lip Absent radius Pulmonic stenosis Muscular hypotonia Cleft palate Cognitive impairment Malar flattening Posteriorly rotated ears Hypotrichosis Dilatation Radial deviation of finger Bruising susceptibility Syndactyly Edema Abnormal cardiac septum morphology Abnormal facial shape Failure to thrive Generalized hypotonia Lymphedema Cystic hygroma

Rare Symptoms - Less than 30% cases


Neurofibrosarcoma Congestive heart failure Underdeveloped supraorbital ridges Webbed neck Pain Flexion contracture Scoliosis Abnormal pulmonary valve morphology Intellectual disability, mild Wide intermamillary distance Dental malocclusion Abnormal bleeding Chylothorax Glaucoma Triangular face Aplasia/Hypoplasia of the thumb Low posterior hairline Reduced factor XII activity Synovitis Superior pectus carinatum Amegakaryocytic thrombocytopenia Multiple lentigines Abnormality of the dentition Recurrent infections Hypospadias Shield chest Joint hyperflexibility Male infertility Cubitus valgus Failure to thrive in infancy Arnold-Chiari malformation Broad forehead Amblyopia High, narrow palate Paralysis Hypertrophic cardiomyopathy Absent earlobe Low hanging columella Subvalvular aortic stenosis Long penis Thickened nuchal skin fold Phocomelia Wrist flexion contracture Aplasia of the ulna Tetraphocomelia Myeloproliferative disorder Double outlet right ventricle Midface capillary hemangioma Abnormality of blood and blood-forming tissues Premature separation of centromeric heterochromatin Atrioventricular canal defect Thick lower lip vermilion Abnormality of the genital system Upper limb undergrowth Short femoral neck Retrognathia Bilateral single transverse palmar creases Low-set ears Corneal opacity Kyphoscoliosis Gastroesophageal reflux Hypogonadism Underdeveloped nasal alae Blue sclerae Knee flexion contracture Abnormality of the lymphatic system Constipation Feeding difficulties Sensorineural hearing impairment Opacification of the corneal stroma Melanoma Polycystic kidney dysplasia Radioulnar synostosis Clitoral hypertrophy Abnormality of the upper limb Severe intrauterine growth retardation Pulmonary artery stenosis Abnormality of the kidney Bicuspid aortic valve Abnormality of the metacarpal bones Abnormality of skin pigmentation Encephalocele Cutis marmorata Tetralogy of Fallot Short thumb Hemiparesis Premature birth Horseshoe kidney Talipes Toe syndactyly Neutropenia Finger syndactyly Renal agenesis Fever Absent thumb Oligodactyly Ascites Hypothyroidism Hypertension Vomiting Complete duplication of thumb phalanx Hepatomegaly Lymphadenitis Primary amenorrhea Plagiocephaly Periorbital edema Recurrent viral infections Episodic fever Ventricular hypertrophy Left ventricular hypertrophy Clumsiness Amenorrhea Elevated alkaline phosphatase Azoospermia Abnormality of color vision Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Inflammatory abnormality of the skin Neurofibromas Leukocytosis Combined immunodeficiency Abnormality of the coagulation cascade Subcutaneous nodule Myelodysplasia Patent foramen ovale Vasculitis Diarrhea Pterygium Poor suck Abdominal distention Camptodactyly Long philtrum Polycythemia Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Hypoplastic iliac wing Abnormal intestine morphology Thrombocytosis Protruding tongue Neurofibrillary tangles Decreased liver function Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Tachypnea Prematurely aged appearance Transposition of the great arteries Broad palm Hypoalbuminemia Decreased fertility Hydroureter Short middle phalanx of the 5th finger Large fontanelles Facial asymmetry Decreased fetal movement Dyspnea Atrial flutter Hepatic failure Abdominal pain Pulmonary hypoplasia Rod-cone dystrophy Hernia Headache Splenomegaly Cardiomyopathy Cholestasis Duodenal stenosis Acute megakaryocytic leukemia Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Nonimmune hydrops fetalis Optic disc hypoplasia Restrictive cardiomyopathy Abnormality of the helix Abnormality of the pulmonary artery Elevated circulating luteinizing hormone level Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the testis Abnormal hair quantity High anterior hairline Premature skin wrinkling Acute leukemia Abnormality of the mouth Aortic root aneurysm Thoracic scoliosis Curly hair Abnormality of digit Prolonged bleeding time Enlarged thorax Prolonged QRS complex Myopathic facies Abnormal location of ears Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Puberty and gonadal disorders Abnormality of the mandible Prominent nasolabial fold Hyperkeratosis pilaris Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Abnormality of coagulation Melanocytic nevus Bifid uvula Panuveitis Muscle weakness Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Immunodeficiency Dysphagia Pes planus Scarring Hypoplastic aortic arch Lymphangioma Cholelithiasis Asymmetry of the thorax Autoimmunity Schwannoma Everted lower lip vermilion Dysarthria Midface retrusion Pleural effusion Mitral valve prolapse Abnormality of the thorax Bilateral ptosis Abnormality of the urinary system Coarse hair Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Decreased body weight Mitral regurgitation Otitis media Arrhythmia Thick vermilion border Joint hypermobility Delayed puberty Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Hepatosplenomegaly Coarse facial features High forehead Alzheimer disease Postural instability Breast carcinoma Abnormality of the fingernails Submucous cleft hard palate Delayed cranial suture closure Metatarsus adductus Hypoplastic toenails Sacral dimple Aplasia/Hypoplasia of the corpus callosum Pulmonary arterial hypertension Spina bifida occulta Low anterior hairline Anal stenosis Narrow face Wide anterior fontanel Chronic diarrhea Broad thumb Sparse scalp hair Cutaneous photosensitivity Fine hair Sloping forehead Eczema Nail dysplasia Esotropia Asthma EEG abnormality Ventriculomegaly Hypoplasia of the corpus callosum Chest pain Falls Hypertonia Alopecia Cerebellar hypoplasia Osteopenia Cirrhosis Hypoparathyroidism Polymicrogyria Short distal phalanx of finger Gastrointestinal hemorrhage Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Lymphoma Delayed eruption of teeth Bowing of the long bones Aplastic/hypoplastic toenail Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Aplasia cutis congenita Venous malformation Absent fingernail Absent hand Aplasia cutis congenita of scalp Aplasia cutis congenita over posterior parietal area Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Central hypotonia Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Acrania Aplasia cutis congenita on trunk or limbs Short foot Telecanthus Small hand Dry skin Small nail Malabsorption Attention deficit hyperactivity disorder Blepharophimosis Wide mouth Protruding ear Split hand Pachygyria Cutaneous finger syndactyly Telangiectasia Meningitis Leukopenia Respiratory insufficiency Portal hypertension Supernumerary nipple Hypoplastic left heart Cortical dysplasia Aplasia/Hypoplasia of the skin Myocardial infarction Abnormality of the skeletal system Renal hypoplasia/aplasia Talipes equinovalgus Dementia Obesity Short nose Gait disturbance Enlarged labia minora Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Triangular mouth Polydactyly Bilateral renal agenesis Accessory spleen Craniofacial dysostosis Narrow naris Hydranencephaly Hand oligodactyly Biliary tract abnormality Bicornuate uterus Eyelid coloboma Upslanted palpebral fissure Narrow mouth Bilateral cleft lip Calvarial skull defect Narrow palate Aganglionic megacolon Open mouth Depressed nasal ridge Protein-losing enteropathy Type II diabetes mellitus Microdontia Macroglossia Single transverse palmar crease Umbilical hernia Downturned corners of mouth Postaxial polydactyly Short palm Flat face Anal atresia Microtia Developmental regression Joint laxity Conductive hearing impairment Bilateral cleft lip and palate Shallow orbits Wormian bones Synostosis of carpal bones Humeroradial synostosis Hypergonadotropic hypogonadism Bone marrow hypocellularity Patellar aplasia Fair hair Capillary hemangioma Ectopic kidney External ear malformation Hip contracture Hypotelorism Reticulocytopenia Duplicated collecting system Proximal placement of thumb Chromosomal breakage induced by crosslinking agents Prolonged G2 phase of cell cycle Hypoplasia of the radius Anemic pallor Hemangioma Deficient excision of UV-induced pyrimidine dimers in DNA Pancytopenia Facial hemangioma Ankle contracture Oligohydramnios Fibular hypoplasia Abnormality of the renal tubule Anonychia Bilateral talipes equinovarus Eosinophilia Cranial nerve paralysis Elbow flexion contracture Recurrent urinary tract infections Primary hypothyroidism Convex nasal ridge Progressive flexion contractures Renal cyst Short philtrum Coloboma Cleft lip Skeletal dysplasia Wide nasal bridge Abnormal isoelectric focusing of serum transferrin Small for gestational age Mesomelic arm shortening Abnormality of the vestibular nerve



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