Autoimmunity, and Hypertrichosis

Diseases related with Autoimmunity and Hypertrichosis

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


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Low match ACQUIRED PARTIAL LIPODYSTROPHY


Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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Other less relevant matches:

Low match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


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

Low match VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1


Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease SusceptibilityAdditional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, {607836}, associated with mutation in the FOXD3 gene, {611539}), 7 (VAMAS3 ), 8 (VAMAS4 ), 4 (VAMAS5 ), and 6p21.3 (VAMAS6 ).

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Is also known as vtlg|vitiligo|slev1|systemic lupus erythematosus, vitiligo-related

Related symptoms:

  • Anemia
  • Alopecia
  • Autoimmunity
  • Nevus
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1

Low match TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY


TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY


Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypertrichosis

Symptoms // Phenotype % cases
Hirsutism Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Hepatomegaly Hypothyroidism Hepatosplenomegaly Intellectual disability Hearing impairment Respiratory tract infection Tall stature Gingival overgrowth Hypertelorism Recurrent respiratory infections Splenomegaly Cataract Congestive heart failure Gait disturbance Cognitive impairment Kyphosis Hypertension Nephropathy Myopathy Vitiligo Diarrhea

Rare Symptoms - Less than 30% cases


Seizures Autoimmune hemolytic anemia Amenorrhea Goiter Hypercalciuria Hyperthyroidism Adrenal insufficiency Hypogonadism Craniofacial hyperostosis Type I diabetes mellitus Global developmental delay Ataxia Growth delay Nevus Blindness Vomiting Sensorineural hearing impairment Depressed nasal bridge Thyroiditis Atopic dermatitis Antinuclear antibody positivity Abnormality of the thyroid gland Immune dysregulation Decreased body weight Corneal opacity Hemolytic anemia Arthritis Coarse facial features Osteopenia Kyphoscoliosis Nystagmus Pain Muscle weakness Gait ataxia Hallucinations Psychosis Type II diabetes mellitus Hip dysplasia Otitis media Decreased antibody level in blood Confusion Dysmetria Neurological speech impairment Delusions Respiratory insufficiency Mental deterioration Anxiety Alopecia areata Dysgammaglobulinemia Muscular hypotonia Optic atrophy Recurrent bacterial infections Motor delay Hyperreflexia Lymphadenopathy Dysarthria Skeletal muscle atrophy Ventriculomegaly Failure to thrive Short neck Cerebellar atrophy Abnormality of the dentition Depressivity Areflexia Delayed skeletal maturation Cerebral atrophy IgA deficiency Osteoporosis Generalized hirsutism Glomerulopathy Abnormality of lipid metabolism Peripheral neuropathy Intellectual disability, mild Hernia Mandibular prognathia Lipodystrophy Macrotia Umbilical hernia Short stature Polycystic ovaries Cardiomyopathy Hypertrophic cardiomyopathy Scoliosis Arthralgia Frontal bossing Proteinuria Hepatic steatosis Nephrotic syndrome Lipoatrophy Hypertriglyceridemia Nephrolithiasis Insulin resistance Ventricular hypertrophy Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Polymicrogyria Chronic lung disease Recurrent viral infections Villous atrophy Lactic acidosis Nausea Sudden cardiac death Decrease in T cell count Peripheral axonal neuropathy Left ventricular hypertrophy Vertigo Ichthyosis Paresthesia Anal atresia Delayed puberty Generalized myoclonic seizures Esophagitis Sensory impairment Abnormality of the cardiovascular system Status epilepticus Abnormal lung morphology Abnormal intestine morphology Pulmonary arterial hypertension Chronic diarrhea Bilateral sensorineural hearing impairment Psoriasiform dermatitis Generalized-onset seizure Hemiparesis Malabsorption Atrial fibrillation Increased antibody level in blood Pigmentary retinopathy Cerebral calcification Iron deficiency anemia Specific learning disability Involuntary movements Increased serum lactate Migraine Gingivitis Memory impairment Generalized tonic-clonic seizures Nausea and vomiting Dystonia Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Visual loss Encephalopathy Headache Renal insufficiency Hypertonia Cerebral cortical atrophy Respiratory distress Dysphagia Fatigue Tremor Fever Visual impairment Feeding difficulties Ptosis Microcephaly Recurrent sinopulmonary infections Granulocytopenia Chronic obstructive pulmonary disease Abdominal pain Weight loss Carious teeth Erythema Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Inflammatory abnormality of the skin Pruritus Dilated cardiomyopathy Stroke Attention deficit hyperactivity disorder Nyctalopia Bronchiolitis Abnormality of the liver Protruding ear Autism Abnormality of the pinna Developmental regression Feeding difficulties in infancy Apnea Recurrent fungal infections Myalgia EEG abnormality Photophobia Jaundice Gastroesophageal reflux Acidosis Dyspnea Anorexia Cerebral visual impairment Abnormality of retinal pigmentation Drowsiness Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Renal Fanconi syndrome Distal arthrogryposis Renal tubular dysfunction Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Tubulointerstitial abnormality Rhabdomyolysis Basal ganglia calcification Progressive sensorineural hearing impairment Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Vertebral fusion Multiple lipomas Aortic dissection Tubulointerstitial nephritis Visual field defect Abnormality of peripheral nerve conduction Muscle fiber atrophy Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Psychomotor deterioration Gastroparesis Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Amaurosis fugax Visual hallucinations Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Auditory hallucinations Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Abnormal nerve conduction velocity Prolonged QT interval Hyperkalemia Eczema Hypogonadotrophic hypogonadism Cochlear degeneration Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Hyperkinesis Homonymous hemianopia Abnormality of acid-base homeostasis EMG abnormality Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Truncal ataxia Cardiac arrest Prominent ear helix Clonus Pneumonia Writer's cramp Schizophrenia Easy fatigability Abnormal macular morphology Aplasia/Hypoplasia of the cerebellum Spotty hypopigmentation Dysphasia Vestibular dysfunction Aphasia Bundle branch block Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Paronychia Abnormal mitochondrial morphology Hemiplegia/hemiparesis Mask-like facies Edema of the dorsum of hands Intestinal obstruction Growth abnormality Personality changes Cochlear malformation Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Progressive night blindness Bilateral ptosis Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Bifid scrotum Femoral bowing Inflammation of the large intestine Wrist flexion contracture Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Delayed closure of the anterior fontanelle Interphalangeal joint erosions Generalized osteoporosis Vertebral compression fractures Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Osteolysis Osteolysis involving tarsal bones Widened metacarpal shaft Thickened skin Decreased liver function Neurofibromas Hypophosphatemia Hyperostosis Acne Rickets Hypercalcemia Precocious puberty Elevated alkaline phosphatase Neoplasm of the skin Nephrocalcinosis Aspiration Gynecomastia Cafe-au-lait spot Ankylosis of feet small joints Primary amenorrhea Abdominal distention Infertility Facial asymmetry Synophrys Hyperactivity Abnormal facial shape Neoplasm Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Knee flexion contracture Subcutaneous nodule Freckling Elevated hepatic transaminase High pitched voice Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Hyperinsulinemia Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Abnormality of the genital system Epidermal acanthosis Triangular face Cirrhosis Hyperhidrosis Insulin-resistant diabetes mellitus Dilatation Loss of subcutaneous adipose tissue from upper limbs Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Membranoproliferative glomerulonephritis Lymphocytosis Progeroid facial appearance Microscopic hematuria Glomerulonephritis Premature ovarian insufficiency Hematuria Polyphagia Oligomenorrhea Split hand Generalized muscular appearance from birth Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Bulbous nose Pes planus Proptosis Brachycephaly Pes cavus Brachydactyly Flexion contracture Micrognathia Labial hypertrophy Long foot Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Pathologic fracture Hyperparathyroidism Recurrent skin infections Thickened calvaria Abnormality of the rib cage Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Synovitis Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Narrow palate Low anterior hairline Abnormal cornea morphology Abnormal echocardiogram Limb ataxia Abnormality of the ilium Lymphoma Thrombocytopenia Spotty hyperpigmentation Peptic ulcer Systemic lupus erythematosus Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypoplastic inferior ilia Thoracolumbar kyphosis Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Spastic gait Amblyopia Osteomalacia Axillary freckling Macrocephaly Myopia Epicanthus Delayed speech and language development Spasticity Strabismus Generalized hypotonia Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Myelofibrosis Talipes equinovarus Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Ovarian cyst Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Pituitary adenoma Prolactin excess Increased circulating cortisol level Syringomyelia Growth hormone excess Abnormality of the skeletal system Hydrocephalus Bowing of the long bones Thick eyebrow Progressive neurologic deterioration Depressed nasal ridge Pancytopenia Optic disc pallor Peripheral demyelination Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Retinal degeneration Intellectual disability, severe Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Broad forehead Pectus carinatum Skeletal dysplasia Prominent forehead Babinski sign Inguinal hernia Midface retrusion Malar flattening Behavioral abnormality Chronic hemolytic anemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Muscular dystrophy, related diseases and genetic alterations

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