Anemia, and Pectus carinatum

Diseases related with Anemia and Pectus carinatum

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


Top matches:

Low match OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3


Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016).For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (OMIM ).

Related symptoms:

  • Anemia
  • Fatigue
  • Headache
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3

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 SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

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Other less relevant matches:

Low match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

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 NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. 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. 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 blood group system (see {111300}). 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, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO


EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory distress Wide nasal bridge Hepatomegaly Epicanthus Splenomegaly Hepatosplenomegaly Neoplasm Short neck Patent ductus arteriosus Ptosis Atrial septal defect Anteverted nares Pneumonia Low-set, posteriorly rotated ears Skeletal dysplasia Scoliosis Generalized hypotonia Intellectual disability Malabsorption Cryptorchidism Hypertension Leukemia Hernia Frontal bossing Joint laxity Depressed nasal bridge Muscular hypotonia Hypertelorism Abnormality of the foot Prominent forehead Bronchiectasis Flexion contracture Cardiomyopathy Abnormality of the skeletal system Delayed skeletal maturation Neutropenia Microcephaly Recurrent infections Exocrine pancreatic insufficiency

Rare Symptoms - Less than 30% cases


Mitral regurgitation Pulmonic stenosis Metaphyseal chondrodysplasia Metaphyseal dysostosis Aplastic anemia Hearing impairment Recurrent bacterial infections Clinodactyly Leukopenia Respiratory insufficiency Sensorineural hearing impairment High palate Metaphyseal widening Type I diabetes mellitus Lymphopenia Short thorax Micropenis Plagiocephaly Abnormal eyebrow morphology Lymphoma Wide intermamillary distance Epistaxis Fine hair Hyperpigmentation of the skin Bilateral ptosis B-cell lymphoma Sparse hair Alopecia Severe short stature Abnormal cardiac septum morphology Hypotrichosis Blue sclerae Gingival overgrowth Fever Joint hypermobility Fatigue Failure to thrive in infancy Abnormality of the kidney Varicose veins Monocytosis Downslanted palpebral fissures Long philtrum Abnormality of the metaphysis High forehead Broad forehead Posteriorly rotated ears Bruising susceptibility Webbed neck Microcytic anemia Hypochromic microcytic anemia Strabismus Cognitive impairment Edema Short ribs Macrotia Intellectual disability, mild Abnormal heart morphology Macroglossia Premature loss of teeth Osteopenia Narrow chest Bone marrow hypocellularity Immunodeficiency Thick vermilion border Recurrent fractures Pancytopenia Ichthyosis Abnormal facial shape Hyperreflexia Sepsis Respiratory tract infection Pectus excavatum Gait disturbance Optic atrophy Recurrent respiratory infections Distal arthrogryposis Overweight Upper limb undergrowth Thrombocytosis Apraxia Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Hodgkin lymphoma Abnormality of the pancreas Heart block Normocytic anemia Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Mucopolysacchariduria Fair hair Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Generalized joint laxity Tracheal stenosis Tibial bowing Portal hypertension Basal cell carcinoma Micromelia Abnormality of the ribs Convex nasal ridge Decreased antibody level in blood Gastrointestinal hemorrhage Postural instability Hypopigmentation of the skin Small hand Short palm Joint hyperflexibility Depressed nasal ridge Arthrogryposis multiplex congenita Hyperlordosis Carcinoma EEG abnormality Brachycephaly Increased bone mineral density Rickets Constipation Dilatation Lumbar hyperlordosis Abnormal form of the vertebral bodies Limited elbow extension Abnormal palate morphology Femoral bowing Mesomelia Squamous cell carcinoma Cone-shaped epiphysis Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Neoplasm of the skin Bowing of the long bones Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Sparse and thin eyebrow Osteoporosis Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Abnormality of the distal phalanx of finger Sparse facial hair Narrow vertebral interpedicular distance Lipoatrophy Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Aspiration pneumonia Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Elevated erythrocyte sedimentation rate Skin nodule Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Nasal obstruction Histiocytosis Elbow flexion contracture Episcleritis Muscle fibrillation Skeletal muscle atrophy Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Panniculitis Reticulocytopenia Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Osteolysis Hypergonadotropic hypogonadism Long fibula Brachydactyly Hypothyroidism Proptosis Hyperkeratosis Diabetes mellitus Hypogonadism Hydrocephalus Ventriculomegaly Ventricular septal defect Headache Pulmonary lymphoma Pes planus Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Myopia Impaired lymphocyte transformation with phytohemagglutinin Non-Hodgkin lymphoma Dyspnea Conductive hearing impairment Aspiration Overgrowth Gynecomastia Telangiectasia Primary amenorrhea Hypertrichosis Hypertriglyceridemia Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Amenorrhea Camptodactyly Decreased testicular size Growth hormone deficiency Full cheeks Polyneuropathy Flat face Cleft upper lip Lymphadenopathy Delayed puberty Retinopathy Apnea Diarrhea Arteritis Visual impairment Unilateral renal agenesis Erythroid hypoplasia Congenital neutropenia Giant platelets Hypoplasia of the thymus Prominent superficial veins Abnormality of lipid metabolism Iron deficiency anemia Long fingers Coarse hair Intermittent thrombocytopenia Tented upper lip vermilion Cutis laxa Glomerulosclerosis Focal segmental glomerulosclerosis Barrel-shaped chest Broad thumb Tubular atrophy Sparse scalp hair Pulmonary arterial hypertension Joint contracture of the hand Neonatal sepsis Asthma Hepatic steatosis Synophrys Hirsutism Intellectual disability, moderate Retrognathia Wide nose Hypospadias Obesity Malar flattening Talipes equinovarus Cor triatriatum Brain atrophy Delayed myelination Cerebral calcification Abnormal lung morphology Cataract Long eyelashes Micrognathia Thickened skin Seizures Renal agenesis Tapered finger Hip dislocation Myeloid leukemia Anterior rib cupping Small for gestational age Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Ovoid vertebral bodies Carious teeth Acute myeloid leukemia Multiple lipomas Persistence of hemoglobin F Steatorrhea Neonatal respiratory distress Generalized muscle weakness Myelodysplasia Coxa vara Specific learning disability Nephrocalcinosis Microdontia Eczema Metaphyseal sclerosis Paroxysmal nocturnal hemoglobinuria Single transverse palmar crease J-shaped sella turcica Dysostosis multiplex Beaking of vertebral bodies Hydronephrosis Large forehead Flared iliac wings Acetabular dysplasia Midface retrusion Kyphosis Macrovesicular hepatic steatosis Obstructive lung disease Enlargement of the costochondral junction Hypoplastic acetabulae Cleft palate Muscle weakness Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Elevated hepatic transaminase Myocardial necrosis Proximal femoral metaphyseal irregularity Microtia Neurological speech impairment Abnormality of the subarachnoid space Bilateral single transverse palmar creases Pleural effusion Thickened calvaria Cholelithiasis Poor suck Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Aortic valve stenosis Cubitus valgus Hydrops fetalis Lymphedema Cafe-au-lait spot Osteopetrosis Low posterior hairline Generalized osteosclerosis Cyanosis Hip dysplasia Esotropia Abnormality of the thorax Overfolded helix Abnormal bleeding Broad toe Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Decreased liver function Pulmonary lymphangiectasia Prominent fingertip pads Proximal placement of thumb Chylothorax Abnormality of the spleen Hyperostosis Short attention span Hydrocele testis Facial hypotonia Agenesis of permanent teeth Neurodevelopmental delay Decreased muscle mass Spasticity Triangular face Congenital cataract Telecanthus Asymmetry of the thorax Hypertrophic cardiomyopathy Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Protruding tongue Underdeveloped supraorbital ridges Aplasia/Hypoplasia of the eyebrow Flat forehead Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Dental crowding Abnormality of the genital system Abnormal pyramidal sign Talipes Hypochromic anemia Reduced alpha/beta synthesis ratio Ascites Abnormality of cardiovascular system morphology Highly arched eyebrow Falls Astigmatism Hypermetropia Postnatal growth retardation Feeding difficulties in infancy Gastroesophageal reflux Polyhydramnios Inguinal hernia Myopathy Hemoglobin H Macrocephaly Motor delay Delayed speech and language development Feeding difficulties Coarse facial features Low-set ears Proteinuria Neurocytoma Triangular nasal tip Halitosis



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