Immunodeficiency, and Macroglossia

Diseases related with Immunodeficiency and Macroglossia

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

Top matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Medium 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

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Other less relevant matches:

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Top 5 symptoms//phenotypes associated to Immunodeficiency and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Myopathy Decreased antibody level in blood Generalized hypotonia Macrocephaly Depressed nasal bridge Pneumonia Bronchitis Seizures Muscular hypotonia Chronic diarrhea Delayed speech and language development Motor delay Skeletal muscle atrophy Hearing impairment Ataxia Behavioral abnormality Diarrhea Kyphosis Ventriculomegaly Respiratory tract infection Tremor Joint hypermobility Recurrent respiratory infections Mandibular prognathia Hyperhidrosis Malabsorption Growth delay Depressivity Muscle weakness Myopia Sinusitis Lymphopenia Cognitive impairment Otitis media Sepsis Micrognathia Cataract Sensorineural hearing impairment Epicanthus Anemia Low-set ears Abnormal facial shape Neurodegeneration Intellectual disability, mild High forehead

Rare Symptoms - Less than 30% cases

Hepatomegaly Hyperreflexia Palmoplantar keratoderma Thrombocytopenia Frontal bossing Skin ulcer Pain Hydrocephalus Alopecia Gastroesophageal reflux Scaphocephaly Neutropenia Recurrent urinary tract infections Encephalopathy Pulmonary arterial hypertension Open bite Large hands Acanthosis nigricans Gynecomastia Intention tremor Polymicrogyria Hypocalcemia Toe syndactyly Bradycardia Splenomegaly Abnormality of the dentition Furrowed tongue Nausea and vomiting Telangiectasia Autism Intellectual disability, moderate Hypopigmented skin patches Dilatation Palmoplantar hyperkeratosis Cellulitis Neoplasm Hydrocele testis Chronic otitis media Prominent supraorbital ridges Hypertrophic cardiomyopathy Increased intracranial pressure Recurrent bacterial infections Pancytopenia Abnormality of the foot Arthritis Osteopenia Prominent forehead Delayed skeletal maturation Bone cyst Peripheral neuropathy Hypoplasia of the maxilla Arrhythmia Neurological speech impairment Hypothyroidism Kyphoscoliosis Umbilical hernia Malar flattening Hypertonia Hypospadias Intellectual disability, severe Gait disturbance Downslanted palpebral fissures Brachydactyly High palate Inguinal hernia Recurrent pneumonia Cellular immunodeficiency Dysphagia Abnormality of the skeletal system Mental deterioration Agammaglobulinemia Protruding tongue Cryptorchidism Short neck Gait ataxia Coarse facial features Precocious puberty Progressive proximal muscle weakness Growth hormone excess IgA deficiency Secondary amenorrhea Glomerulopathy Spinal rigidity Lipoatrophy Skeletal muscle hypertrophy Lipodystrophy Hyperinsulinemia Progressive macrocephaly Adenoma sebaceum Broad foot Colonic diverticula Pyloric stenosis Polycystic ovaries Atherosclerosis Pancreatitis Accelerated skeletal maturation Generalized hirsutism Subcutaneous lipoma Muscle stiffness Abnormality of the hair Oligomenorrhea Prominent superficial veins Insulin resistance Hyperkeratosis Scaling skin Fibroma Abnormality of the nail Cleft lip Generalized hyperkeratosis Abnormal blistering of the skin Ectodermal dysplasia Dry skin Hypotrichosis Pruritus Erythema Neoplasm of the central nervous system Exercise-induced myalgia Abnormality of skeletal muscle fiber size Congenital generalized lipodystrophy Decreased proportion of CD4-positive T cells Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Prolonged QTc interval Generalized lipodystrophy Arterial stenosis Small for gestational age Palpitations Thickened skin Multiple trichilemmomata Colorectal polyposis Diabetes mellitus Osteoporosis Cleft upper lip Renal insufficiency Congestive heart failure Cardiomyopathy Generalized dystonia Flexion contracture Lobular carcinoma in situ Merkel cell skin cancer Myalgia Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Elevated hepatic transaminase Oral cleft Pseudopapilledema Thyroid adenoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Myocardial infarction Atrial fibrillation Hypertriglyceridemia Intestinal polyp Ventricular hypertrophy Skin vesicle Micromelia Varicocele Hyperlordosis Follicular thyroid carcinoma Epidermal acanthosis Growth hormone deficiency Recurrent fractures Hepatic steatosis Nephropathy Hirsutism Hepatic failure Endometrial carcinoma Cirrhosis Abnormality of skin pigmentation Epiphora Joint laxity Fragile skin Cutaneous finger syndactyly Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Mixed hearing impairment Fatigue Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Fever Rod-cone dystrophy Cardiac arrest Cor pulmonale Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Myelopathy Glossoptosis Dementia Osteomyelitis Rheumatoid arthritis Encephalitis Recurrent skin infections Conjunctivitis Meningitis Abnormal lung morphology Hepatitis Skin rash Retinopathy Autoimmunity Weight loss Cleft palate Hypoplasia of dental enamel Blepharitis Cerebral calcification Drowsiness Macrocytic anemia Basal ganglia calcification Abnormality of the immune system Athetosis Recurrent upper respiratory tract infections Eosinophilia Leukopenia Increased body weight Aspiration Anorexia Focal-onset seizure Megaloblastic anemia Blindness Dyskinesia Abnormality of movement Pallor Irritability Feeding difficulties in infancy Dystonia Papilloma Vomiting Woolly hair Abnormal eyebrow morphology Absent eyelashes Proximal amyotrophy Cheilitis Abnormality of the face Autistic behavior Cardiomegaly Tetralogy of Fallot Microdontia Esotropia Round face Syncope Sudden cardiac death Coma Carious teeth Hip dislocation Abnormal cardiac septum morphology Hypoglycemia Normocytic anemia Thin upper lip vermilion Constipation Abnormal heart morphology Patent ductus arteriosus Abnormality of cardiovascular system morphology Syndactyly Ventricular septal defect Wide nasal bridge Folate-responsive megaloblastic anemia Glossitis Folate deficiency Oral ulcer Hamartomatous polyposis Arteriovenous malformation Enlarged polycystic ovaries Babinski sign Hypermetropia Abnormality of the cerebral white matter Corneal opacity Broad forehead Pectus carinatum Anxiety Hepatosplenomegaly Skeletal dysplasia Abnormality of chromosome stability Macrotia Decrease in T cell count Abnormality of neutrophils Genu valgum Areflexia Impaired T cell function Hernia Midface retrusion Cerebral atrophy Microcephaly Cerebellar atrophy Intrauterine growth retardation Talipes equinovarus Optic atrophy Dysarthria Chronic bronchitis Dysmetria Spasticity Depressed nasal ridge Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Psychosis Confusion Communicating hydrocephalus Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Highly arched eyebrow Thick eyebrow Retinal degeneration Hypoplasia of the corpus callosum Absent speech Shawl scrotum Small hand Hyperactivity Short thumb Broad-based gait Thick lower lip vermilion Micropenis Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Memory impairment Prominent nose Short foot Short palm Sandal gap Bulbous nose Joint hyperflexibility Delayed puberty Pes planus Synophrys EEG abnormality Short philtrum Camptodactyly of finger Blepharophimosis Wide mouth Abnormality of the pinna Narrow palpebral fissure Hypogonadism Strabismus Distal lower limb amyotrophy Nystagmus Obesity Abnormality of toe Moderately short stature Mood swings Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Down-sloping shoulders Relative macrocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Clinodactyly of the 5th finger Pes cavus Cubitus valgus Cachexia Widely spaced teeth Combined immunodeficiency Cavernous hemangioma Hemangioma Cutis marmorata Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Achalasia Goiter Breast carcinoma Melanoma Externally rotated hips Drooling Abnormality of the thyroid gland Cranial nerve paralysis Neoplasm of the skin Cafe-au-lait spot Exotropia Anteverted nares Subcutaneous nodule Broad thumb Overgrowth Lymphoma Abnormal cerebellum morphology Short nose Macule Multiple lipomas Leukemia Prolactin excess Long penis Mild global developmental delay Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Hypoplastic scapulae Aggressive behavior Meningioma Megalencephaly Skin tags Papilledema Cystic hygroma Abnormality of the vasculature Lipoma Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Bulbar signs Papule Abnormality of the kidney Heart murmur Impaired smooth pursuit Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Malnutrition Dysostosis multiplex Delusions Cranial hyperostosis Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Flat occiput Vacuolated lymphocytes Abnormality of the gingiva Carcinoma Abnormality of dental structure Proximal muscle weakness Narrow mouth Flat face Pectus excavatum Bronchiectasis Headache Atrial septal defect Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Antineutrophil antibody positivity Long ear Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Enteroviral hepatitis


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