Anemia, and Retrognathia

Diseases related with Anemia and Retrognathia

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


Top matches:

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 COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

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Other less relevant matches:

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

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 NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Low match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Anemia and Retrognathia

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Thrombocytopenia Hypospadias High palate Short stature Cleft palate Hypertelorism Failure to thrive Generalized hypotonia Abnormal facial shape Cryptorchidism Pancytopenia Polyhydramnios Short neck Elevated hepatic transaminase Leukemia Epicanthus Hepatomegaly Talipes equinovarus Ventriculomegaly Hepatosplenomegaly Abnormality of the liver Neonatal hypotonia Downslanted palpebral fissures Abnormal cardiac septum morphology Respiratory insufficiency Strabismus Microtia Long philtrum Sloping forehead Dental crowding Intellectual disability, moderate Flexion contracture Depressed nasal bridge Anteverted nares Low-set ears Fatigue Depressed nasal ridge Neoplasm Ventricular septal defect Cleft upper lip

Rare Symptoms - Less than 30% cases


Scoliosis Osteosarcoma Short nose Atrial septal defect Low-set, posteriorly rotated ears Narrow mouth Talipes Absent thumb Webbed neck Hypoplasia of the radius Spina bifida Hernia Pulmonary hypoplasia Patent ductus arteriosus Anal atresia Hip dislocation Abnormality of the kidney Respiratory failure Wide nasal bridge Inguinal hernia Abnormal heart morphology Neutropenia Microphthalmia Abnormality of the face Respiratory distress Cataract Petechiae Congenital cataract Camptodactyly Purpura Microretrognathia Abnormality of the pinna Pachygyria Single transverse palmar crease Pallor Cerebral calcification Tapered finger Triangular face Cleft lip Spasticity Jaundice Micropenis Cerebellar hypoplasia Splenomegaly Hypertonia Muscular hypotonia Osteoporosis Hyperreflexia Ataxia Convex nasal ridge Reticulocytopenia Clinodactyly Prominent nose Recurrent infections Myelodysplasia Hyperactivity Arthrogryposis multiplex congenita Upslanted palpebral fissure Muscular hypotonia of the trunk Acute myeloid leukemia Abnormality of the genital system Hyperkeratosis Skeletal muscle atrophy Cerebral cortical atrophy Short thumb 11 pairs of ribs Hydrops fetalis Immunodeficiency Diarrhea Vomiting Hypoplasia of the corpus callosum Abnormality of the hand Triphalangeal thumb Macrocytic anemia Acute leukemia Increased mean corpuscular volume Everted upper lip vermilion Persistence of hemoglobin F Abnormal bleeding Myeloid leukemia Edema Chronic diarrhea Abnormal cortical gyration Decreased fetal movement Premature birth Combined immunodeficiency Small for gestational age Lymphopenia Neurodegeneration Abnormality of chromosome stability Abnormal hair quantity Recurrent urinary tract infections Hypoplastic coccygeal vertebrae Medulloblastoma Glioma Recurrent sinopulmonary infections Rhabdomyosarcoma Transient erythroblastopenia Hypoplastic sacral vertebrae Abnormality of the nervous system Decrease in T cell count B lymphocytopenia Choanal atresia Bifid thoracic vertebrae Pollakisuria Primary amenorrhea T-cell lymphoma Recurrent infection of the gastrointestinal tract Anorectal anomaly Elevated red cell adenosine deaminase activity Cutaneous photosensitivity Amenorrhea Penoscrotal hypospadias Lymphoma Dysgammaglobulinemia Hemolytic anemia Abnormal eyelid morphology B-cell lymphoma Recurrent respiratory infections Cachexia Recurrent pneumonia Premature ovarian insufficiency Abnormality of neuronal migration Hydronephrosis Non-midline cleft lip Long nose Macrotia Freckling Low anterior hairline Abnormality of the musculature Abnormality of the hair Autoimmune hemolytic anemia Sinusitis Cafe-au-lait spot Recurrent bronchitis Pneumonia Neuroblastoma Otitis media Enlarged fetal cisterna magna Bronchiectasis Abnormality of the microglia Anal stenosis Mental deterioration Attention deficit hyperactivity disorder Acute lymphoblastic leukemia Hearing abnormality Muscle weakness Prominent nasal bridge Deep philtrum Telangiectasia Dental malocclusion Malar prominence Open mouth Akinesia Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Knee flexion contracture Thickened skin Progressive neurologic deterioration Multiple joint contractures Abnormal pupillary function Abnormality of the small intestine Interphalangeal joint contracture of finger Cardiomegaly Oligohydramnios Underdeveloped nasal alae Ascites Metabolic acidosis Everted lower lip vermilion High, narrow palate Neonatal respiratory distress Thoracic hypoplasia Ichthyosis Hepatic necrosis Pneumothorax Extramedullary hematopoiesis Generalized hyperkeratosis Severe hydrops fetalis Abnormality of the spinal cord Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Myocardial necrosis Decreased beta-glucocerebrosidase protein and activity Nonimmune hydrops fetalis Desquamation of skin soon after birth Sudden episodic apnea Fetal akinesia sequence Cardiorespiratory arrest Distal arthrogryposis Congenital ichthyosiform erythroderma Hypokinesia Opisthotonus Abnormality of coagulation Hepatic failure Abnormality of eye movement Mastoiditis Blepharophimosis Elbow flexion contracture Narrow face Hypoplasia of dental enamel Cerebellar vermis hypoplasia Astrocytosis Thick eyebrow Facial asymmetry Pulmonic stenosis Synophrys Postnatal growth retardation Sandal gap Hyperlordosis Pes planus Posteriorly rotated ears Severe short stature Pes cavus Clinodactyly of the 5th finger Delayed skeletal maturation Kyphosis Abnormality of the skeletal system Progressive vitiligo Narrow palate Patent foramen ovale Developmental regression Lumbar scoliosis Apnea Proptosis Dysphagia Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Selective tooth agenesis Hydropic placenta Acute monocytic leukemia Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Branchial cyst Severe intrauterine growth retardation Proportionate short stature Low voltage EEG Dislocated radial head Clitoral hypertrophy Hypoplastic anemia Obesity Erythroid hypoplasia Abnormality of the outer ear Single umbilical artery Esophageal atresia Occipital encephalocele Abnormality of the vertebral column Tracheoesophageal fistula Anophthalmia Renal hypoplasia/aplasia Hemivertebrae Aqueductal stenosis Abnormal vertebral morphology Encephalocele Abnormal form of the vertebral bodies Renal hypoplasia Renal agenesis Microcornea Abnormality of cardiovascular system morphology Hydrocephalus Abnormality of the optic nerve Anotia Abnormal T cell morphology Intellectual disability, severe Tetraplegia Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Skin rash Hypertrophic cardiomyopathy Renal insufficiency Cardiomyopathy Femoral hernia Fever Visual impairment Nystagmus Microtia, third degree Abnormality of the fallopian tube Absence of the sacrum Radial club hand Arrhinencephaly Type II transferrin isoform profile Gastrointestinal inflammation Neuronal loss in central nervous system Thick lower lip vermilion Fetal distress Cleft soft palate Esophagitis Tracheomalacia Abnormality of the urinary system Melanoma Mitral regurgitation Ventricular hypertrophy Cerebral atrophy Mitral valve prolapse Tetralogy of Fallot Migraine Bifid uvula Delayed puberty Autistic behavior Autism Arrhythmia Cerebellar atrophy Hyperhidrosis Macrovesicular hepatic steatosis Hypohidrosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Neurodevelopmental delay Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Hyperbilirubinemia Cholestasis Polydactyly Hip dysplasia Focal-onset seizure Decreased antibody level in blood Hepatic steatosis Postaxial polydactyly Cirrhosis Malabsorption Aggressive behavior Gliosis Intellectual disability, profound Partial duplication of thumb phalanx Brain neoplasm Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Myelomeningocele Neurocytoma Protruding tongue Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Short toe Triangular nasal tip Congestive heart failure Bruising susceptibility Colon cancer Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Anemia of inadequate production Aplastic anemia Hypoplastic ilia Thrombocytosis Vertebral fusion Congenital glaucoma Glaucoma Delayed cranial suture closure Abnormal dermatoglyphics Bone marrow hypocellularity Coarctation of aorta Nausea Nausea and vomiting Narrow chest Lethargy Macroglossia Neurological speech impairment Status epilepticus Hearing impairment Gait ataxia Rod-cone dystrophy Absent speech Syndactyly Behavioral abnormality Myopia Brachydactyly Delayed speech and language development Congenital microcephaly Mandibular prognathia Increased CSF protein Lissencephaly Spastic tetraparesis Opacification of the corneal stroma Cerebral visual impairment Decreased liver function Postnatal microcephaly Tetraparesis Hypothyroidism Gastroesophageal reflux Broad forehead Cutaneous syndactyly Pectus carinatum High forehead Malar flattening Frontal bossing Ptosis Central hypothyroidism Mild microcephaly Spondyloepiphyseal dysplasia Progressive microcephaly Thin upper lip vermilion High myopia Decreased testicular size Febrile seizures Smooth philtrum Toe syndactyly Hypermetropia Dolichocephaly Protruding ear Mild fetal ventriculomegaly



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