Anemia, and Pectus excavatum

Diseases related with Anemia and Pectus excavatum

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


Top matches:

Low match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

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 INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Pectus excavatum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Seizures Scoliosis Hearing impairment Atrial septal defect Anteverted nares Wide nasal bridge Respiratory distress Clinodactyly Inguinal hernia Epicanthus Abnormal facial shape Ptosis Microcephaly Downslanted palpebral fissures Failure to thrive Ventricular septal defect Wide mouth Pulmonic stenosis Umbilical hernia Hernia Hypertension Depressed nasal bridge Hypodontia Syndactyly Brachydactyly High palate Abnormal heart morphology Abnormality of the skeletal system Short neck Flexion contracture Hepatosplenomegaly Hypothyroidism Hemolytic anemia Thrombocytopenia Delayed cranial suture closure

Rare Symptoms - Less than 30% cases


Dental malocclusion Hip dysplasia Hypoparathyroidism Short palm Down-sloping shoulders Short foot Craniosynostosis Skeletal dysplasia Osteopenia Developmental regression Attention deficit hyperactivity disorder Brachycephaly Wide nose Abnormal pyramidal sign Cataract Hydrocephalus Hypoplasia of the maxilla Myopia Telecanthus Sparse lateral eyebrow Metatarsus adductus Protruding ear Intellectual disability, mild Cleft palate Pain Shawl scrotum Sparse scalp hair Thickened skin Long eyelashes Cerebral calcification Macroglossia Behavioral abnormality Short nose Abdominal pain Hepatomegaly Joint hyperflexibility Hip dislocation Joint laxity Osteoporosis Recurrent respiratory infections Hypospadias Neoplasm Patent ductus arteriosus Strabismus Low-set ears Long philtrum Sensorineural hearing impairment Vomiting Macrocephaly Intrauterine growth retardation Frontal bossing Abnormality of cardiovascular system morphology Thin upper lip vermilion Agenesis of corpus callosum Dilatation Abnormal cardiac septum morphology Hypertonia Hypoplasia of the corpus callosum Midface retrusion Respiratory insufficiency Optic atrophy Asthma Ataxia Generalized hypotonia Abnormal vertebral morphology Lymphedema Webbed neck Splenomegaly Malar flattening Synophrys Small hand Broad thumb Hydronephrosis Wide anterior fontanel Delayed skeletal maturation Poor coordination Radial deviation of finger Right ventricular outlet obstruction Hematemesis Bifid distal phalanx of toe Duplication of the distal phalanx of hand Small thenar eminence Vertebral fusion Total anomalous pulmonary venous return Hypoplastic sacrum Thoracic hemivertebrae Aplasia/Hypoplasia involving the metacarpal bones Forearm undergrowth Broad toe Abnormality of the carpal bones Mesomelic short stature Absent uvula Cervical agenesis Right atrial isomerism Heart block Short humerus Oligodactyly Absent radius Thoracic scoliosis Short clavicles Gingival overgrowth Dental crowding Truncus arteriosus Partial duplication of thumb phalanx Secundum atrial septal defect Allergy Ecchymosis Nystagmus Complete atrioventricular canal defect Anomalous pulmonary venous return Phocomelia Triangular mouth Aplasia of the ulna Renal duplication Posteriorly rotated ears Hypoplastic labia majora Patellar subluxation Proptosis Missing ribs Micropenis Quadricuspid aortic valve Growth delay Bifid tongue Thoracolumbar scoliosis Double outlet right ventricle Severe short stature Mesomelia External genital hypoplasia Nevus flammeus Increased number of teeth Retrognathia Confusion Clitoral hypoplasia Mesoaxial polydactyly Long palpebral fissure Delayed eruption of permanent teeth Normocytic anemia Short middle phalanx of the 5th finger Vaginal atresia Short digit Aplasia of the pectoralis major muscle Lactose intolerance Ambiguous genitalia Limb undergrowth Nail dysplasia Hemivertebrae Rib fusion Disproportionate short-limb short stature Flat face Tibial torsion Cutis marmorata Abnormality of the dentition Knee flexion contracture Mixed hearing impairment Truncal obesity Anonychia Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Basal ganglia calcification Hypergonadotropic hypogonadism Clonus Gynecomastia Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Otitis media Nevus Neurodegeneration Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Ankle clonus Sparse body hair Narrow chest Ectopic calcification Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Recurrent ear infections Congenital hypothyroidism Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Genu valgum Congenital cataract Recurrent infections Cutaneous photosensitivity Aplasia/Hypoplasia of the thumb Absent thumb Hypoplastic toenails Sacral dimple Aplasia/Hypoplasia of the corpus callosum Sandal gap Spina bifida occulta Abnormality of the fingernails Low anterior hairline Narrow face Chronic diarrhea Fine hair Underdeveloped supraorbital ridges Sloping forehead Eczema Lymphoma Delayed eruption of teeth Abnormality of skin pigmentation Dry skin Malabsorption Toe syndactyly Blepharophimosis Postnatal growth retardation Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Submucous cleft hard palate Anal stenosis Broad forehead Babinski sign Prominent nasal bridge Aggressive behavior Conductive hearing impairment Deeply set eye Macrotia Narrow mouth Autism Gait ataxia Diabetes mellitus Hypogonadism Pes cavus Areflexia Acute lymphoblastic leukemia Microphthalmia Kyphosis Myopathy Intellectual disability, severe Gait disturbance Skeletal muscle atrophy Peripheral neuropathy Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Abnormality of the antihelix Atrioventricular canal defect Interstitial pulmonary abnormality Limited elbow extension Mitral regurgitation Arrhythmia Congestive heart failure Short 2nd finger Hypochromic anemia Long toe Moderate global developmental delay Microcytic anemia Preauricular skin tag Hypoplasia of dental enamel Low posterior hairline Arachnodactyly High myopia Tapered finger Smooth philtrum Upslanted palpebral fissure Dysphagia Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Arthralgia Recurrent fractures Increased serum pyruvate Aortic aneurysm Ileus Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Prematurely aged appearance Progressive sensorineural hearing impairment Emphysema Epiphyseal dysplasia Redundant skin Full cheeks Shock Cutis laxa Wormian bones Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Oligohydramnios Overgrowth Vesicoureteral reflux Hyperalaninemia Poor fine motor coordination Ascending tubular aorta aneurysm Varicose veins Pulmonary lymphangiectasia Prune belly Facial edema Intestinal lymphangiectasia Stomatocytosis Chylothorax Periorbital edema Spherocytosis Generalized edema Nonimmune hydrops fetalis Hydrocele testis Dysarthria Deep venous thrombosis Cellulitis Pericardial effusion Cupped ear Hydrops fetalis Ascites Gastroesophageal reflux Polyhydramnios Edema Fever Genital edema Ventriculomegaly Severe lactic acidosis Increased serum lactate Corpus callosum atrophy Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Trigonocephaly Broad-based gait Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Coma Dystonia Metabolic acidosis Lactic acidosis Unsteady gait Abnormality of eye movement Spastic paraplegia Severe global developmental delay Muscular hypotonia of the trunk Neonatal hypotonia Acidosis Cerebral atrophy Arterial stenosis Dermal translucency Petechiae Volvulus Fatigue Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Broad philtrum Large earlobe Polydactyly Widow's peak Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Macrocytic anemia Broad palm Mild short stature Increased intracranial pressure Abnormality of the genital system Diarrhea Nausea Round face Aortic regurgitation Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Atrioventricular block Hypoplasia of the radius Eosinophilia Finger clinodactyly Bruising susceptibility Horseshoe kidney Aortic valve stenosis Bradycardia Short thumb Atrial fibrillation Epistaxis Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Gastrointestinal hemorrhage Generalized-onset seizure Single transverse palmar crease Vascular tortuosity Hypertrophic cardiomyopathy Joint contracture of the hand Abnormal lung morphology Delayed myelination Brain atrophy Hepatic steatosis Thick vermilion border Hirsutism Abnormality of the foot Pectus carinatum Respiratory tract infection Proteinuria Coarse hair Coarse facial features Prominent forehead Cardiomyopathy Hyperreflexia Spasticity Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Bone marrow hypocellularity Glomerulosclerosis Polymicrogyria Obesity Joint hypermobility Cirrhosis Cleft upper lip Delayed puberty Hypermetropia Camptodactyly Pes planus Hyperactivity Alopecia Depressivity Hypoplastic acetabulae Focal segmental glomerulosclerosis Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Barrel-shaped chest Superiorly displaced ears



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