Autoimmunity, and Hirsutism

Diseases related with Autoimmunity and Hirsutism

In the following list you will find some of the most common rare diseases related to Autoimmunity and Hirsutism 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 PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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 ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hirsutism Anemia Congestive heart failure Alopecia Hepatomegaly Diarrhea Seizures Vitiligo Failure to thrive Global developmental delay Short stature Hepatosplenomegaly Vomiting Kyphosis Nephropathy Hypertension Hypertrichosis Hypertelorism Recurrent respiratory infections Ptosis Pes planus Respiratory tract infection Jaundice Visual impairment Obesity Visual loss Carious teeth Abnormality of retinal pigmentation Cataract Growth delay Feeding difficulties Abnormality of the dentition Depressivity Otitis media Micrognathia Scoliosis Renal insufficiency Elevated hepatic transaminase Lipodystrophy Glomerulopathy Precocious puberty Polycystic ovaries Insulin resistance Hypertriglyceridemia Hypogonadism Abnormal facial shape Goiter Hepatic steatosis Cognitive impairment Blindness Peripheral neuropathy Proteinuria Cardiomyopathy Intellectual disability, mild Splenomegaly Dilatation Immunodeficiency

Rare Symptoms - Less than 30% cases


Gynecomastia Muscular hypotonia Strabismus Ovarian cyst Patent ductus arteriosus Decreased liver function Clinodactyly Pneumonia Amenorrhea Cafe-au-lait spot Anxiety Nephrocalcinosis Lymphadenopathy Microcephaly Acne Precocious puberty in females Hyperthyroidism Abnormality of the kidney Delayed speech and language development Adrenal insufficiency Hyperostosis Hyperkeratosis Erythema Pruritus Dry skin Hypercalciuria Asthma Hepatitis Recurrent pneumonia Systemic lupus erythematosus Abnormality of the middle ear Elevated alkaline phosphatase Facial hirsutism Multinodular goiter Recurrent cystitis High palate Purpura Feeding difficulties in infancy Nyctalopia Hyporeflexia Constipation Rod-cone dystrophy Myoclonus Abdominal pain Weight loss Autism Dyspnea Gastroesophageal reflux Photophobia Myalgia Abnormality of the liver Dilated cardiomyopathy Dystonia Generalized tonic-clonic seizures Ophthalmoplegia Pancreatitis Macular degeneration Delayed puberty Hypogonadotrophic hypogonadism Nausea Anorexia Left ventricular hypertrophy Involuntary movements Pulmonary arterial hypertension Type II diabetes mellitus Specific learning disability Encephalopathy Respiratory distress Postnatal growth retardation Thyroiditis Abnormality of the pinna Protruding ear Malabsorption Anal atresia Polymicrogyria Growth hormone deficiency Recurrent otitis media Increased body weight Abdominal distention Hydroureter Bundle branch block Retinal pigment epithelial atrophy Autoimmune thrombocytopenia Short neck Hashimoto thyroiditis Tubulointerstitial nephritis Posterior subcapsular cataract Progressive sensorineural hearing impairment Ataxia Nystagmus Sensorineural hearing impairment Pain Motor delay Optic atrophy Fatigue Aplasia/Hypoplasia of the cerebellum Respiratory insufficiency Nevus Pigmentary retinopathy Infertility Accelerated skeletal maturation Kyphoscoliosis Hernia Hyperhidrosis Macrotia Cirrhosis Epidermal acanthosis Acute pancreatitis Tall stature Nephrolithiasis Acanthosis nigricans Osteoporosis Hyperlipidemia Hyperinsulinemia Decreased body weight Thickened skin Gingival overgrowth Polyphagia Insulin-resistant diabetes mellitus Oligomenorrhea Abnormality of the thyroid gland Proptosis Hypertrophic cardiomyopathy Brachydactyly Lipoatrophy Nephrotic syndrome Alopecia areata Gait disturbance Abnormality of lipid metabolism Depressed nasal bridge Arthralgia Myopathy Urethral obstruction Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Cardiorespiratory arrest Facial diplegia Transient ischemic attack Auditory hallucinations Amaurosis fugax Aortic dissection Renal tubular dysfunction Delusions Writer's cramp Exudative retinopathy Progressive external ophthalmoplegia Visual hallucinations Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Atopic dermatitis Drowsiness Psychotic episodes Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Increased circulating androgen level Wolff-Parkinson-White syndrome Abnormality of the pituitary gland Speech apraxia Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Persistence of primary teeth Abnormality of the renal tubule Hepatic necrosis Chronic hepatic failure Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction ST segment depression Hypoplastic male external genitalia Left ventricular failure Increased CSF lactate Seborrheic dermatitis Leber optic atrophy Multifocal atrial tachycardia Rhabdomyolysis Stroke-like episode Childhood-onset truncal obesity Anterior hypopituitarism High-frequency sensorineural hearing impairment Spontaneous hematomas Gait imbalance Reduced consciousness/confusion Gastroparesis Cerebral ischemia Muscle fiber atrophy Abnormality of immune system physiology Chronic active hepatitis Basal ganglia calcification Ischemic stroke Localized hirsutism External ophthalmoplegia Reduced tendon reflexes Abnormality of renal calyx morphology Abnormality of prothrombin Ragged-red muscle fibers Hypopigmented skin patches Abnormality of the femoral head EEG with occipital slowing Abnormal retinal artery morphology Mutism Schizophrenia Hyperkinesis Easy fatigability Vitreous haze Peptic ulcer Growth abnormality Hemiparesis Bilateral sensorineural hearing impairment Spotty hyperpigmentation Status epilepticus Psychosis Ventricular hypertrophy Atrial fibrillation Dysgammaglobulinemia Exercise intolerance Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Type I diabetes mellitus Widely-spaced incisors Glue ear Nonproductive cough Vestibular dysfunction Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Hyperostosis frontalis interna Aphasia Crohn's disease Dysphasia Receptive language delay Hyperkalemia Visual field defect Prolonged QT interval Abnormal adipose tissue morphology Multiple lipomas Vertebral fusion Hemiplegia/hemiparesis Mask-like facies Chronic kidney disease Hemiplegia Atrioventricular block Unilateral breast hypoplasia Cachexia Decreased nerve conduction velocity Dilatation of the bladder Bilateral ptosis Aortic aneurysm Granular macular appearance Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Personality changes Intestinal obstruction Thickened ears Bifid scrotum Abnormality of the cerebellar vermis Paronychia Hemeralopia Testicular atrophy Constriction of peripheral visual field Impaired vibratory sensation Hyperglycemia Diabetes insipidus Tubulointerstitial fibrosis Glucose intolerance Polyuria Abnormal left ventricle morphology Arteriosclerosis Abnormal renal physiology Disinhibition Endocardial fibroelastosis Abnormal renal morphology Emphysema Pulmonary fibrosis Menstrual irregularities Elevated C-reactive protein level Obsessive-compulsive behavior Truncal obesity Achromatopsia Atherosclerosis Hypercholesterolemia Hepatic encephalopathy Tachypnea Cone/cone-rod dystrophy Urethral stenosis Abnormality of the hand Cholelithiasis Urinary retention Portal hypertension Chills Pyelonephritis Polydipsia Nephritis Poor fine motor coordination Chronic otitis media Urinary urgency Abnormal retinal morphology Horizontal nystagmus Oligospermia Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Broad foot Ketoacidosis Myocardial fibrosis Male hypogonadism Myocarditis Hyperventilation Gingivitis Tubular atrophy Pendular nystagmus Recurrent bronchitis Acute hepatic failure Attenuation of retinal blood vessels Elevated serum creatinine Poor coordination Alopecia of scalp Pericardial effusion Hyperuricemia Decreased HDL cholesterol concentration Chorioretinal atrophy Short finger High-frequency hearing impairment Agenesis of permanent teeth Glycosuria Bronchitis Increased number of teeth Peripheral visual field loss Subcapsular cataract Pericarditis Thoracic scoliosis Severe sensorineural hearing impairment Hypoventilation Restrictive cardiomyopathy Retinal atrophy Absence seizures Hypergonadotropic hypogonadism Abnormal macular morphology Respiratory failure Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Urethral stricture Prominent ear helix Behavioral abnormality Abnormal chorioretinal morphology Polydactyly Deeply set eye Female hypogonadism Epigastric pain Conductive hearing impairment Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Irritability Chronic infection Impaired temperature sensation Abnormal muscle tone Decreased glomerular filtration rate Progressive night blindness Squared iliac bones Renovascular hypertension Spotty hypopigmentation Right ventricular hypertrophy Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Cochlear degeneration Bilateral intracranial calcifications Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Albuminuria Abnormality of acid-base homeostasis Episodic quadriplegia Abnormal spermatogenesis Pallor Short toe Optic disc pallor Vesicoureteral reflux Urinary incontinence Round face Gastrointestinal hemorrhage Decreased testicular size Progressive visual loss Cyanosis Cardiomegaly Sleep disturbance Recurrent urinary tract infections Bull's eye maculopathy Chronic diarrhea Hepatic fibrosis Hyperpigmentation of the skin Generalized-onset seizure Abnormality of female external genitalia Ascites Retinal dystrophy Autistic behavior First degree atrioventricular block Sparse hair Scarring Retinopathy Cough Abnormality of the optic disc Hypotrichosis Hypermetropia Melena Hepatic failure Pulmonic stenosis Hematemesis Retinal degeneration Frontal balding Increased total bilirubin Stage 5 chronic kidney disease Vertical nystagmus Tachycardia Sinusitis Short nasal septum Abnormality of the cardiovascular system Osteosarcoma Osteomalacia Growth hormone excess Syringomyelia Increased circulating cortisol level Prolactin excess Pituitary adenoma Pituitary hypothyroidism Freckling Intestinal polyposis Craniofacial hyperostosis Pseudohypoparathyroidism Hamartomatous polyposis Myelofibrosis Axillary freckling Thyroid nodule Hyperparathyroidism Pathologic fracture Large cafe-au-lait macules with irregular margins Hyperactivity Widened metacarpal shaft Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Sclerotic cranial sutures Neoplasm Synophrys Neurofibromas Facial asymmetry Primary amenorrhea Aspiration Neoplasm of the skin Hypercalcemia Rickets Hypophosphatemia Polyostotic fibrous dysplasia Monostotic fibrous dysplasia Osteolysis involving tarsal bones Psoriasiform dermatitis Lymphedema Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Abnormality of the fingernails Reduced bone mineral density Osteomyelitis Thin skin Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Abnormal lung morphology Inflammatory abnormality of the skin Downslanted palpebral fissures Skin rash Intellectual disability, severe Short nose Malar flattening Abnormality of metabolism/homeostasis Thrombocytopenia Prominent forehead High forehead Papule Depressed nasal ridge Genu valgum Arachnodactyly Palmoplantar keratoderma Convex nasal ridge Dehydration Low posterior hairline Cutaneous photosensitivity Interphalangeal joint erosions Thin metacarpal cortices Chronic lung disease Congenital generalized lipodystrophy Angina pectoris Abnormality of the ovary Bone cyst Glioma Generalized lipodystrophy Decreased fertility in females Decreased serum leptin High pitched voice Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Labial hypertrophy Generalized muscular appearance from birth Flexion contracture Long foot Skeletal muscle hypertrophy Pes cavus Decreased serum complement C3 Hematuria Premature ovarian insufficiency Glomerulonephritis Microscopic hematuria Progeroid facial appearance Lymphocytosis Membranoproliferative glomerulonephritis Loss of truncal subcutaneous adipose tissue Large hands Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Mandibular prognathia Umbilical hernia Triangular face Abnormality of the genital system Clitoral hypertrophy Frontal bossing Brachycephaly Carpal osteolysis Camptodactyly of toe Ankylosis Antinuclear antibody positivity Vertebral compression fractures Generalized osteoporosis Delayed closure of the anterior fontanelle Wrist flexion contracture Generalized hypertrichosis Broad metatarsal Hip contracture Protrusio acetabuli Contractures of the large joints C1-C2 subluxation Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Ankle contracture Arthropathy Osteopenia Interphalangeal joint contracture of finger Coarse facial features Arthritis Corneal opacity Bulbous nose Small hand Delayed eruption of teeth Hypoplasia of the maxilla Split hand Narrow nasal bridge Subcutaneous nodule Knee flexion contracture Osteolysis Metaphyseal widening Abnormality of the thorax Hypermelanotic macule Abnormality of the ear Hypoplasia of the zygomatic bone Concave nasal ridge Cerebral calcification Dysarthria Vertical orbital dystopia Nocturnal lagophthalmos Anoperineal fistula Congenital mitral stenosis Muscle weakness Hyperreflexia Fever Eversion of lateral third of lower eyelids Skeletal muscle atrophy Tremor Dysphagia Ventriculomegaly Cerebellar atrophy Hypertonia Headache Pilonidal sinus Premature thelarche Arrhythmia Recurrent aspiration pneumonia Anterior plagiocephaly Recurrent ear infections Ureteropelvic junction obstruction Diaphragmatic eventration Bronchomalacia Biliary atresia Prominent fingertip pads Epibulbar dermoid Prominent eyelashes Vertebral clefting Common atrium Anorectal anomaly Crossed fused renal ectopia Single ventricle Sclerosing cholangitis Liver abscess Cerebral atrophy Areflexia Broad philtrum Muscle cramps Ichthyosis Vertigo Peripheral axonal neuropathy Lactic acidosis Polyneuropathy Coma Postural instability Abnormal cerebellum morphology Paresthesia Generalized myoclonic seizures Sudden cardiac death Sensory impairment Migraine Increased serum lactate Memory impairment Hip dysplasia Confusion Dysmetria Elevated serum creatine phosphokinase Apnea Delayed skeletal maturation Cerebellar hypoplasia Dementia Cerebral cortical atrophy Gait ataxia Acidosis EEG abnormality Mental deterioration Nausea and vomiting Developmental regression Attention deficit hyperactivity disorder Stroke Neurological speech impairment Lethargy Arthrogryposis multiplex congenita Congenital cataract Trichorrhexis nodosa Small face White forelock Wide nose Intellectual disability, moderate Paralysis Coloboma Abnormal cardiac septum morphology Astigmatism Joint hypermobility Hemolytic anemia Hydronephrosis Highly arched eyebrow Single transverse palmar crease Hypodontia Intestinal malrotation Prominent nose Dental malocclusion Decreased antibody level in blood Joint laxity Hypoglycemia Congenital diaphragmatic hernia Wide nasal bridge Poliosis Crusting erythematous dermatitis Diffuse telangiectasia Generalized hypotonia Cleft palate Cryptorchidism Epicanthus Myopia Micropenis Abnormality of the skeletal system Ventricular septal defect Atrial septal defect Hypospadias Abnormal heart morphology Severe short stature Posteriorly rotated ears Microdontia Coarctation of aorta Cholangitis Overweight Severe hearing impairment Transposition of the great arteries Cerebellar vermis atrophy Autoimmune hemolytic anemia Congenital hypothyroidism IgA deficiency Anal stenosis Scaphocephaly Celiac disease Patellar dislocation Short columella Depressed nasal tip Short 5th finger Retinal coloboma Mitral stenosis Optic nerve coloboma Long palpebral fissure Right bundle branch block Blue sclerae Horseshoe kidney Small nail Heterotopia Renal dysplasia Long eyelashes Abnormal vertebral morphology Sparse and thin eyebrow Congenital hip dislocation Hyperbilirubinemia Preauricular pit Abnormal dermatoglyphics Abnormality of the urinary system Poor suck Failure to thrive in infancy Brittle hair Cupped ear Bilateral cryptorchidism Immune dysregulation



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