Brachydactyly, and Fatigue

Diseases related with Brachydactyly and Fatigue

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


Top matches:

Medium match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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Other less relevant matches:

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low 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

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match MARSHALL-SMITH SYNDROME


Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Low match SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME


SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME Is also known as hbsc disease

Related symptoms:

  • Pain
  • Anemia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-HEMOGLOBIN C DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Fatigue

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Frontal bossing Retrognathia Atrial septal defect Hypertelorism Hepatosplenomegaly Growth delay Ventricular septal defect Patent ductus arteriosus Edema Microcephaly Premature birth Abnormal facial shape Vomiting Muscular hypotonia Intrauterine growth retardation Downslanted palpebral fissures Anteverted nares Cleft palate Short thumb Triphalangeal thumb Depressed nasal bridge Bruising susceptibility Abnormal cardiac septum morphology Migraine Respiratory distress High palate Mitral valve prolapse Seizures Abnormality of cardiovascular system morphology Splenomegaly

Rare Symptoms - Less than 30% cases


Hernia Meningitis Overgrowth Depressed nasal ridge Nausea and vomiting Lymphadenopathy Reduced bone mineral density High forehead Neutropenia Partial duplication of thumb phalanx Proptosis Cleft upper lip Malar flattening Abnormality of the genital system Agenesis of corpus callosum Pneumonia Macrocytic anemia Hypertension Abnormality of the skeletal system Clinodactyly Flexion contracture Pectus excavatum Long philtrum Persistence of hemoglobin F Reticulocytopenia Atrioventricular block Increased mean corpuscular volume Abnormality of the hand Generalized hypotonia Pain Short neck Hepatomegaly Protruding tongue Abnormal heart morphology Thrombocytopenia Aortic regurgitation Myalgia Short digit Nausea Coarctation of aorta Retinal dystrophy Neoplasm Bradycardia Hypoplasia of the radius Purpura Short nose Osteosarcoma Atrial fibrillation Eosinophilia Short toe Absent thumb Pallor Congestive heart failure Cleft lip Finger clinodactyly Ventricular hypertrophy Hearing impairment Webbed neck Hypoplastic left heart Horseshoe kidney Bowing of the legs Thoracic scoliosis Right bundle branch block Bundle branch block Hypoplasia of the ulna Limited elbow extension Absent radius Menorrhagia Oligodactyly Atrioventricular canal defect Petechiae Short humerus Aortic valve stenosis Encephalopathy Abnormal vertebral morphology Congenital glaucoma 11 pairs of ribs Hypoplastic ilia Thrombocytosis Acute myeloid leukemia Myeloid leukemia Vertebral fusion Colon cancer Delayed cranial suture closure Anemia of inadequate production Myelodysplasia Abnormal dermatoglyphics Bone marrow hypocellularity Hydrops fetalis Pancytopenia Narrow chest Lethargy Aplastic anemia Unilateral cleft lip Epistaxis Heart block Abnormality of the cardiovascular system Gastrointestinal hemorrhage Asthma Polydactyly Syndactyly Diarrhea Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Parietal foramina Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Congenital hypoplastic anemia Short clavicles Abnormality of the carpal bones Truncus arteriosus Increased body weight Slender long bone Overfolded helix Increased susceptibility to fractures Incoordination Laryngomalacia Sleep apnea Accelerated skeletal maturation Generalized hirsutism Gingival overgrowth Hypoplasia of the odontoid process Tall stature Decreased body weight Pachygyria Bowing of the long bones Omphalocele Thin skin Open mouth Choanal atresia Blue sclerae Spinal canal stenosis Poor appetite Aciduria Recurrent aspiration pneumonia Large sternal ossification centers Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Atlantoaxial dislocation Dicarboxylic aciduria Megalocornea Eclabion Short sternum Abnormality of the larynx Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Glossoptosis Pulmonary arterial hypertension Growth hormone deficiency Down-sloping shoulders Mesoaxial polydactyly Low-set ears Muscle weakness Scoliosis Quadricuspid aortic valve Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Aplasia of the ulna Motor delay Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Feeding difficulties Optic atrophy Recurrent fractures Conductive hearing impairment Hirsutism Short distal phalanx of finger Thick eyebrow Polymicrogyria Joint hyperflexibility Synophrys Short philtrum Craniosynostosis Apnea Pes planus Ventriculomegaly Umbilical hernia Osteopenia Kyphoscoliosis Prominent forehead Cerebellar hypoplasia Midface retrusion Cerebral atrophy Kyphosis Hypoplasia of the corpus callosum Leukemia Macroglossia Glaucoma Amyloidosis Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Arthropathy Pseudopapilledema Abnormal joint morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Increased intracranial pressure Joint dislocation Abnormality of neutrophils Retrobulbar optic neuritis Ataxia Hypogonadism Underdeveloped nasal alae Short metacarpal Single transverse palmar crease Downturned corners of mouth Tachycardia Postnatal growth retardation Thin upper lip vermilion Clinodactyly of the 5th finger Abnormal granulocyte morphology Immunodeficiency Intellectual disability, mild Ventricular fibrillation Ventricular extrasystoles Sinus bradycardia Left ventricular noncompaction Sick sinus syndrome Vasculitis Papule Cardiomegaly Tetraparesis Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Hyperbilirubinemia Exercise intolerance Muscle cramps Reticulocytosis Hemolytic anemia Muscular dystrophy Paralysis Mental deterioration Renal insufficiency Jaundice Rod-cone dystrophy Acute kidney injury Progressive encephalopathy Skin rash Visual impairment Arthritis EEG abnormality Arthralgia Skeletal dysplasia Blindness Macrocephaly Fever Delayed speech and language development Myoglobinuria Sensorineural hearing impairment Myopathy Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Decreased mean corpuscular volume Eczema Recurrent otitis media Strabismus Low-set, posteriorly rotated ears Talipes Congenital cataract Neurological speech impairment Broad forehead Microtia Pectus carinatum Abnormality of the kidney Intellectual disability, moderate Dental crowding Micropenis Hypospadias Obesity Vertigo Talipes equinovarus Wide nasal bridge Epicanthus Visual loss Spina bifida Ptosis Hypochromic microcytic anemia Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Aplasia/Hypoplasia of the earlobes Polycystic kidney dysplasia Brain neoplasm Myelomeningocele Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Sudden cardiac death Cryptorchidism Sinusitis Irregular vertebral endplates Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Pulmonary edema Narrow nose Hip contracture Left ventricular hypertrophy Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Tachypnea Narrow palpebral fissure Recurrent pneumonia Cardiac arrest Palpitations Cataract Melanoma Fetal distress Cleft soft palate Esophagitis Acute leukemia Tracheomalacia Syncope Abnormality of the urinary system Mitral regurgitation Arrhythmia Thick lower lip vermilion Tetralogy of Fallot Bifid uvula Delayed puberty Autistic behavior Autism Osteoporosis Distal widening of metacarpals



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