Autoimmunity, and Amenorrhea

Diseases related with Autoimmunity and Amenorrhea

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


Top matches:

Low match PREMATURE OVARIAN FAILURE 1; POF1


Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

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 WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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Other less relevant matches:

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 VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match THROMBOCYTOPENIA 2; THC2


Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).

THROMBOCYTOPENIA 2; THC2 Is also known as thrombocytopenia, autosomal dominant, 2

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hydronephrosis
  • Bruising susceptibility
  • Hematuria


SOURCES: OMIM MESH MENDELIAN

More info about THROMBOCYTOPENIA 2; THC2

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 VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Top 5 symptoms//phenotypes associated to Autoimmunity and Amenorrhea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Purpura Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Primary amenorrhea Hypothyroidism Autoimmune thrombocytopenia Short stature Microcephaly Cognitive impairment Seizures Global developmental delay Short neck High palate Mental deterioration Specific learning disability Anal atresia Seborrheic dermatitis Hemolytic anemia Hypoparathyroidism Vitiligo Schizophrenia Acne Fever Diarrhea Patent ductus arteriosus Menorrhagia Delayed speech and language development Abnormality of the pinna Hypertelorism Attention deficit hyperactivity disorder Autoimmune hemolytic anemia Hydronephrosis Hallucinations Bruising susceptibility Neoplasm Abnormal facial shape Cleft palate Retrognathia Hypogonadism Hyperactivity Premature ovarian insufficiency Scoliosis Immunodeficiency Hypospadias Psychosis

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Abnormality of cardiovascular system morphology Dementia Ataxia Growth delay Epistaxis Inguinal hernia Abnormal heart morphology Micrognathia Depressivity Prolonged bleeding time Obesity Muscle weakness Hearing abnormality Recurrent infections Behavioral abnormality Cerebellar atrophy Atrial septal defect Cachexia Abnormality of neuronal migration Hypoplasia of the corpus callosum Ventricular septal defect Anal stenosis Respiratory insufficiency Cataract Muscular hypotonia Hydrocephalus Abnormal thrombocyte morphology Posteriorly rotated ears Conotruncal defect Myelomeningocele Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Interrupted aortic arch Right aortic arch Impaired T cell function Gastrointestinal hemorrhage Duodenal stenosis Retinal vascular tortuosity Psychotic episodes Delusions Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Sacral meningocele Ptosis Hypertonia Increased mean platelet volume Generalized tonic-clonic seizures Polymicrogyria Abnormal bleeding Truncus arteriosus Meningocele Umbilical hernia Renal dysplasia Arthritis Anxiety Blepharophimosis Congenital cataract Bulbous nose Bifid uvula Chorea Renal agenesis Tetralogy of Fallot Low posterior hairline Spina bifida Bipolar affective disorder Hypocalcemia Bicuspid aortic valve Arnold-Chiari malformation Nasal speech Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Inflammation of the large intestine Basal ganglia calcification Posterior embryotoxon Dysmetria Perimembranous ventricular septal defect Heart block Hypercalciuria Polyneuropathy Blindness Vomiting Congestive heart failure Hirsutism Cafe-au-lait spot Arthrogryposis multiplex congenita Prominent nasal bridge Protruding ear Goiter Diabetes mellitus Prominent nose Dystonia Adrenal insufficiency Gait disturbance Dysarthria Hyperreflexia Peripheral neuropathy Sensorineural hearing impairment Myelofibrosis Freckling Hyperthyroidism Depressed nasal bridge Delayed puberty Bilateral sensorineural hearing impairment Abnormality of metabolism/homeostasis Sparse hair Primary adrenal insufficiency Hypogonadotrophic hypogonadism Generalized-onset seizure Hyporeflexia Gingival overgrowth Anorexia Arrhythmia Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Areflexia Elevated serum creatine phosphokinase Abnormality of the cardiovascular system Nephrotic syndrome Hemiparesis Encephalopathy Delayed skeletal maturation Atrial fibrillation Ventricular hypertrophy Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Visual loss Abnormality of retinal pigmentation Cerebral calcification Macular degeneration Easy fatigability Hyperkinesis Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Cardiomyopathy Reduced tendon reflexes External ophthalmoplegia Myopathy Pancreatitis Abnormality of the dentition Cerebral atrophy Exercise intolerance Type I diabetes mellitus Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Kyphosis Renal insufficiency Headache Pigmentary retinopathy Hip dysplasia Cerebral cortical atrophy Hypertrophic cardiomyopathy Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Nyctalopia Abnormality of the liver Erythema Developmental regression Feeding difficulties in infancy Apnea Abdominal pain Ophthalmoplegia Proteinuria Myalgia EEG abnormality Photophobia Jaundice Gastroesophageal reflux Acidosis Dyspnea Autism Weight loss Gait ataxia Lethargy Carious teeth Memory impairment Chronic kidney disease Increased serum lactate Migraine Sensory impairment Sudden cardiac death Constipation Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Nephropathy Nausea Nausea and vomiting Cerebellar hypoplasia Lactic acidosis Peripheral axonal neuropathy Vertigo Rod-cone dystrophy Ichthyosis Myoclonus Confusion Osteoporosis Paresthesia Malabsorption Growth abnormality Intestinal obstruction Atrioventricular block Abnormal nerve conduction velocity Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Abnormal mitochondrial shape Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Cochlear degeneration Paralytic ileus Ileus Joint hemorrhage Absence of alpha granules Abnormal platelet aggregation Abnormal platelet function Anisopoikilocytosis Ecchymosis Anisocytosis Petechiae Heterotopia Prolonged whole-blood clotting time Gastrointestinal angiodysplasia Prolonged bleeding after surgery Reduced factor VIII activity Impaired platelet aggregation Abnormal cochlea morphology Systemic lupus erythematosus Abnormality of the genitourinary system Aortic valve stenosis Mitral valve prolapse Webbed neck Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Hemianopia Proximal tubulopathy Decreased nerve conduction velocity Overlapping toe Rhabdomyolysis Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Focal segmental glomerulosclerosis Abnormality of immune system physiology Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Ventriculomegaly Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Thyroiditis Pulmonary embolism Abnormality of peripheral nerve conduction Renal tubular dysfunction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Aortic dissection Distal arthrogryposis Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Respiratory distress Aplastic anemia Dysphagia Abnormality of chromosome stability Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Mastoiditis Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hypotrichosis Acute lymphoblastic leukemia Neuroblastoma Abnormality of movement Abnormality of the musculature Long nose Malar prominence Progressive vitiligo Combined immunodeficiency Conductive hearing impairment Vesicoureteral reflux Ovarian cyst Pseudohypoparathyroidism Hamartomatous polyposis Multinodular goiter Pulmonic stenosis Axillary freckling Thyroid nodule Aggressive behavior Polyostotic fibrous dysplasia Precocious puberty in females Large cafe-au-lait macules with irregular margins Generalized hypotonia Monostotic fibrous dysplasia Downslanted palpebral fissures Hernia Absent speech Frontal bossing Intellectual disability, mild Babinski sign Intellectual disability, severe Alopecia Micropenis High forehead Camptodactyly Non-midline cleft lip Sensory neuropathy Craniofacial hyperostosis Flat occiput Recurrent respiratory infections Pneumonia Abnormality of extrapyramidal motor function Fine hair Myocardial infarction Sparse scalp hair Choreoathetosis Intrauterine growth retardation Hypergonadotropic hypogonadism Hyperlipidemia Sparse eyebrow Aplasia/Hypoplasia of the eyebrow Respiratory failure Hypoplasia of the uterus Insulin-resistant diabetes mellitus Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Upslanted palpebral fissure Macrotia Deep philtrum Cutaneous photosensitivity Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Sloping forehead Dehydration Convex nasal ridge Otitis media Lymphoma Neurodegeneration Triangular face Cleft upper lip Leukemia Small for gestational age Dental malocclusion Intellectual disability, moderate Abnormality of the nervous system Decreased testicular size Underdeveloped nasal alae Intestinal polyposis Fatigue Astigmatism Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Iris coloboma Menstrual irregularities Hypergalactosemia Femoral hernia Microtia Short philtrum Craniosynostosis Abnormality of the kidney Cleft lip Telecanthus Narrow mouth Microphthalmia Flexion contracture Low-set ears Strabismus Hypoplasia of the thymus Alcoholism Unilateral lung agenesis Fatigable weakness Tremor Optic atrophy Hepatomegaly Hypertension Motor delay Visual impairment Feeding difficulties Pain Failure to thrive Nystagmus Secondary amenorrhea Anodontia Perisylvian polymicrogyria Gonadal dysgenesis Hematuria Increased circulating gonadotropin level Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Unilateral primary pulmonary dysgenesis Congenital conductive hearing impairment Peripheral demyelination Hyperparathyroidism Axonal loss Hypophosphatemia Abnormality of the ear Myopathic facies Neurofibromas Hypoplasia of the brainstem Pathologic fracture Obsessive-compulsive behavior Apathy Abnormality of the thyroid gland Dysdiadochokinesis Abnormality of the hand Hyperostosis Osteomalacia Growth hormone excess Syringomyelia Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Increased circulating cortisol level Prolactin excess Pituitary adenoma Open mouth Osteosarcoma Pituitary hypothyroidism Submucous cleft hard palate Rickets Perineal fistula Tall stature Vascular ring Central nervous system degeneration Synophrys Facial asymmetry Infertility Velopharyngeal insufficiency Giant platelets Abdominal distention Paranoia Nevus Nephrolithiasis Mood swings Hypercalcemia Platybasia Decreased liver function Gynecomastia Aspiration Nephrocalcinosis Neoplasm of the skin Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Elevated alkaline phosphatase Precocious puberty Reduced prothrombin consumption



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