Anemia, and Macroglossia

Diseases related with Anemia and Macroglossia

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


Top matches:

Low match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

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Other less relevant matches:

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

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 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

Top 5 symptoms//phenotypes associated to Anemia and Macroglossia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Abnormal facial shape Seizures Flexion contracture Epicanthus Flat face Umbilical hernia Microcytic anemia Macrocephaly Talipes equinovarus Thick lower lip vermilion Wide nasal bridge Protruding tongue Hepatomegaly Hepatosplenomegaly Short neck Malar flattening Low-set ears Optic atrophy Telecanthus Micropenis Constipation Hydronephrosis Skeletal dysplasia Ambiguous genitalia Intellectual disability, moderate Brachydactyly Growth delay Radial deviation of finger Pain Hypochromic anemia Micrognathia Splenomegaly Hypospadias Joint stiffness Short nose Abnormality of the face Midface retrusion Failure to thrive Frontal bossing Microcephaly

Rare Symptoms - Less than 30% cases


Triangular mouth Dental crowding Muscular hypotonia Edema Communicating hydrocephalus Shawl scrotum Obstructive lung disease Sensorineural hearing impairment J-shaped sella turcica Lymphopenia Microtia Abnormality of the genital system Muscle weakness Behavioral abnormality Spasticity Hemoglobin H Reduced alpha/beta synthesis ratio Pectus carinatum Long eyelashes Coarse facial features Prominent forehead Ventricular septal defect Patent ductus arteriosus Pectus excavatum Thrombocytopenia Thickened skin Respiratory distress Abnormality of the skeletal system Hypochromic microcytic anemia U-Shaped upper lip vermilion Hemivertebrae Abnormal hemoglobin Volvulus Male pseudohermaphroditism Clinodactyly Posteriorly rotated ears Abdominal pain Tented upper lip vermilion Recurrent urinary tract infections Aganglionic megacolon Everted lower lip vermilion Dental malocclusion Beaking of vertebral bodies Abnormality of the kidney Gastroesophageal reflux Retrognathia Pneumonia Hernia Cardiomegaly Hip dislocation Proptosis Delayed skeletal maturation Cardiomyopathy Kyphoscoliosis Postnatal growth retardation Erythema nodosum Clubbing of fingers Elevated erythrocyte sedimentation rate Increased antibody level in blood Lipodystrophy Prominent nose Limb undergrowth Lymphadenopathy Skin rash Abnormal pyramidal sign Arthralgia Macrotia Hyperhidrosis Arrhythmia Intellectual disability, mild Congestive heart failure Skeletal muscle atrophy Fever Inguinal hernia Wide nose Recurrent infections Long philtrum Respiratory tract infection High forehead Recurrent respiratory infections Downslanted palpebral fissures Thick vermilion border Short digit Abnormality of the skull Insomnia Brain neoplasm Aplasia/Hypoplasia of the earlobes Webbed neck Protuberant abdomen Fatigue Bruising susceptibility Talipes Distal arthrogryposis Pericardial effusion Congenital cataract Neurological speech impairment Broad forehead Low-set, posteriorly rotated ears Asymmetry of the thorax Heart murmur Flat forehead Osteosarcoma High palate Anisopoikilocytosis Dysplastic aortic valve Urinary glycosaminoglycan excretion Abnormality of mucopolysaccharide metabolism Heparan sulfate excretion in urine Short toe Spina bifida Polycystic kidney dysplasia Dermatan sulfate excretion in urine Intervertebral space narrowing Morphological abnormality of the central nervous system Focal seizures, afebril Abnormality of the optic disc Obesity Edema of the lower limbs Supernumerary nipple Aplasia/Hypoplasia of the eyebrow Localized skin lesion Abnormality of nasopharyngeal adenoids Inspiratory stridor Underdeveloped supraorbital ridges Myelomeningocele Thoracolumbar kyphosis Neoplasm Cataract Ptosis Increased mean corpuscular volume Hyperplasia of the maxilla Hydroureter Triangular nasal tip Vertebral fusion Missing ribs Thoracolumbar scoliosis Double outlet right ventricle Nevus flammeus Increased number of teeth Long palpebral fissure External genital hypoplasia Bifid tongue Mesomelia Delayed cranial suture closure Disproportionate short-limb short stature Abnormal vertebral morphology Wide anterior fontanel Gingival overgrowth Broad thumb Hypoplastic labia majora Rib fusion Hypodontia Aplasia/Hypoplasia involving the metacarpal bones Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Thoracic hemivertebrae Forearm undergrowth Vaginal atresia Broad toe Mesomelic short stature Renal duplication Clitoral hypoplasia Delayed eruption of permanent teeth Normocytic anemia Short middle phalanx of the 5th finger Nail dysplasia Small hand Neurocytoma Abnormality of metabolism/homeostasis Drooling Coxa valga Aspiration Renal agenesis Tapered finger Irritability Cerebral atrophy Spastic diplegia Hypertonia Vomiting Intellectual disability, severe Dysphagia Feeding difficulties Strabismus Generalized hypotonia Infantile muscular hypotonia Increased intracranial pressure Short palm Scoliosis Confusion Pulmonic stenosis Abnormal cardiac septum morphology Wide mouth Thin upper lip vermilion Severe short stature Intrauterine growth retardation Hypoganglionosis Facial hypotonia Endometriosis Widely-spaced maxillary central incisors Absent frontal sinuses Ileus Perimembranous ventricular septal defect Decreased serum testosterone level Chronic constipation Recurrent upper respiratory tract infections Hypoplastic acetabulae Tachypnea Malnutrition Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Agammaglobulinemia Bronchitis Combined immunodeficiency Recurrent pneumonia Abnormality of neutrophils Sinusitis Bronchiectasis Otitis media Decreased antibody level in blood Sepsis Neurodegeneration Decrease in T cell count Impaired T cell function Immunodeficiency Spastic paraplegia Self-injurious behavior Encephalitis Depressed nasal ridge Hypoplasia of penis Abnormality of movement Nausea and vomiting Feeding difficulties in infancy Myopia Autism Cerebral cortical atrophy Agenesis of corpus callosum Clinodactyly of the 5th finger Depressivity Abnormality of the dentition Blindness Malabsorption Diarrhea Profound global developmental delay Episodic fever Elevated serum creatine phosphokinase Dilatation Motor delay Cognitive impairment Abnormality of the Leydig cells Clubbing of toes Lipoatrophy Joint laxity Right bundle branch block Hyperostosis Subcutaneous nodule Arachnodactyly Arthrogryposis multiplex congenita Respiratory insufficiency Hypothyroidism Dry skin Increased T3/T4 ratio Hypercholesterolemia No permanent dentition Thyroid hormone receptor defect Long thorax Drowsiness Congenital hypothyroidism Relative macrocephaly Coxa vara Delayed eruption of teeth Wormian bones Congenital hip dislocation Increased body weight Hoarse voice Clumsiness Omphalocele Broad-based gait Dysphasia Abnormality of fontanelles Progressive hearing impairment Myositis Episcleritis Panniculitis Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Abnormally large globe Rimmed vacuoles Finger swelling Basal ganglia calcification Hypermelanotic macule Long fingers Glucose intolerance Growth abnormality Conjunctivitis Stiff skin Adipose tissue loss Bone pain Limitation of joint mobility Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Mitral valve prolapse Abnormality of the cardiovascular system Cyanosis Ascites Hearing impairment Tachycardia Developmental regression Aggressive behavior Dyspnea Mandibular prognathia Hyperactivity Kyphosis Elbow flexion contracture Hyperpigmentation of the skin Abnormality of the male genitalia Hepatic steatosis Bone marrow hypocellularity Joint contracture of the hand Abnormal lung morphology Cerebral calcification Delayed myelination Brain atrophy Hirsutism Glomerulosclerosis Abnormality of the foot Synophrys Hypertrophic cardiomyopathy Proteinuria Abnormal heart morphology Atrial septal defect Hyperreflexia Coarse hair Focal segmental glomerulosclerosis Hypertriglyceridemia Elevated hepatic transaminase Inability to walk Camptodactyly of finger Scarring Abnormality of the liver Erythema Arthritis Osteopenia Barrel-shaped chest Babinski sign Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Dysostosis multiplex Tubular atrophy Cervical agenesis



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