Cardiomyopathy, and Erythema

Diseases related with Cardiomyopathy and Erythema

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


Top matches:

Low match HYPOTRICHOSIS 8; HYPT8


Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).Woolly hair is also a feature of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (OMIM ) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly HairFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6 ).Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2 ) is caused by mutation in the LIPH gene (OMIM ) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (OMIM ) is caused by mutation in the KRT25 gene (OMIM ) on chromosome 17q21.An autosomal dominant form of woolly hair with hypotrichosis (HYPT13 ) is caused by mutation in the KRT71 gene (OMIM ) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH ) with normal hair density is caused by mutation in the KRT74 gene (OMIM ) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3 ) as well as an ectodermal dysplasia of the hair/nail type (ECTD7 ).

HYPOTRICHOSIS 8; HYPT8 Is also known as lah3|hypotrichosis, localized, autosomal recessive 3

Related symptoms:

  • Cardiomyopathy
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about HYPOTRICHOSIS 8; HYPT8

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

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Other less relevant matches:

Low match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

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 CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Erythema

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Erythema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Blindness Woolly hair Congestive heart failure Growth delay Failure to thrive Cataract Microcephaly Arrhythmia Intellectual disability Hearing impairment Palmoplantar keratoderma Delayed skeletal maturation Pruritus Seizures Hyperkeratosis Hyperhidrosis Global developmental delay Short neck Tachycardia Cafe-au-lait spot Sudden cardiac death Cardiomegaly Cerebral atrophy Kyphosis Specific learning disability Abnormality of the dentition Hepatomegaly Muscular hypotonia Nystagmus Dyspnea Ataxia Visual loss Hernia Hypopigmented skin patches Micrognathia Feeding difficulties Abnormal heart morphology Skin rash Aplasia/Hypoplasia of the eyebrow Palpitations Curly hair Absent eyebrow Brittle hair Splenomegaly Anemia Alopecia Fatigue

Rare Symptoms - Less than 30% cases


Abnormal cardiac septum morphology Hydrocephalus Status epilepticus Pigmentary retinopathy Autism Retinal dystrophy Respiratory distress Wide nose Atrial septal defect Hypogonadism Cerebral cortical atrophy Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Abnormality of skin pigmentation Encephalopathy Anal atresia Constipation Psychosis Ventricular septal defect Decreased body weight Atopic dermatitis Type II diabetes mellitus Hypertrichosis Bilateral ptosis Sacral dimple Cerebral visual impairment Hypoplasia of the zygomatic bone Spotty hypopigmentation Hemiparesis Gastroesophageal reflux Abnormality of the cardiovascular system Peripheral axonal neuropathy Neurological speech impairment Sensorineural hearing impairment Abnormal facial shape Feeding difficulties in infancy EEG abnormality Abnormality of retinal pigmentation Mitral regurgitation Intellectual disability, progressive Hyperpigmentation of the skin High forehead Behavioral abnormality Optic atrophy Long philtrum Inguinal hernia Myoclonus Dysarthria Gait ataxia Ptosis Hypertelorism Edema Coarse facial features Aspiration Gingival overgrowth Hydronephrosis Involuntary movements Mental deterioration Developmental regression Nyctalopia Dolichocephaly Anteverted nares Abnormality of the nail Depressivity Generalized myoclonic seizures Mutism Aphasia Dysphasia Abnormal eyelash morphology Abnormality of the testis Generalized hypotonia Scoliosis Hypertonia Gait disturbance Vomiting Ventriculomegaly Dysphagia Cognitive impairment Delayed speech and language development Depressed nasal bridge Motor delay Hyperreflexia Intellectual disability, severe Paronychia Leukemia Reduced number of teeth Syndactyly Malar flattening Short nose Cryptorchidism Neoplasm Abnormality of hair texture Alopecia of scalp Cardiac arrest Vertigo Respiratory failure Right ventricular cardiomyopathy Sparse scalp hair Right bundle branch block Bundle branch block Ventricular tachycardia Clinodactyly of the 5th finger Syncope Carious teeth Dilatation Pain Delayed puberty Jaundice Headache Abnormality of the skeletal system Sparse hair Sparse eyebrow Palmoplantar hyperkeratosis Sparse eyelashes Sparse and thin eyebrow Hypotrichosis Recurrent infections Ectodermal dysplasia Recurrent respiratory infections Protruding ear Diabetes mellitus Severe short stature Seborrheic dermatitis Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Speech apraxia Left ventricular failure Increased CSF lactate Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Wolff-Parkinson-White syndrome Abnormality of the pulmonary artery Visual hallucinations Episodic vomiting Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Abnormal location of ears Cardiorespiratory arrest Puberty and gonadal disorders Delusions Transient ischemic attack Posterior subcapsular cataract Morphological abnormality of the gastrointestinal tract Progressive external ophthalmoplegia Mitochondrial myopathy Abnormality of the renal tubule Psychomotor deterioration Motor polyneuropathy Abnormal macular morphology 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 Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Hemeralopia Dysesthesia Gastroparesis Heart block Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Crohn's disease Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Hypoparathyroidism Xerostomia Strabismus Growth abnormality Ischemic stroke Schizophrenia Goiter Hyperkinesis Easy fatigability Multiple palmar creases Chronic kidney disease Reduced tendon reflexes Atrioventricular block Cachexia Decreased nerve conduction velocity Hypercalciuria Papule Hemiplegia Ragged-red muscle fibers External ophthalmoplegia Abnormality of mitochondrial metabolism Truncal ataxia Left ventricular hypertrophy Anorexia Hallucinations Multiple plantar creases Clonus Eyelid fasciculation EMG abnormality Pancreatitis Generalized hirsutism Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Purpura Macular degeneration Aortic aneurysm Abnormality of the auditory canal Vitiligo Primary adrenal insufficiency Glomerulopathy Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Pulmonary embolism Vertebral fusion Distal arthrogryposis Drowsiness Cutaneous T-cell lymphoma Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Progressive sensorineural hearing impairment Multiple lipomas Hyponatremia Hemiplegia/hemiparesis Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Focal segmental glomerulosclerosis Prolonged QT interval Inappropriate crying Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Vestibular dysfunction Hyperkalemia Visual field defect Prominent ear helix Hyperkeratosis pilaris Abnormality of the hairline Melanocytic nevus Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Hydroureter Malnutrition Open bite Large for gestational age Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Abnormality of the optic disc Biparietal narrowing Poor suck Sleep apnea Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Abnormality of vision Relative macrocephaly Abnormal tricuspid valve morphology Ectropion Hyperextensible skin Deep philtrum Redundant skin Failure to thrive in infancy Scaling skin Pleural effusion Multiple cafe-au-lait spots Anterior creases of earlobe Aplasia/Hypoplasia of the corpus callosum Deep palmar crease Multiple lentigines Abnormality of the optic nerve Cavernous hemangioma Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Excessive wrinkled skin Increased nuchal translucency Gastrointestinal dysmotility Abnormal mitral valve morphology Slow-growing hair Thickened helices Subvalvular aortic stenosis Abnormal aortic valve morphology Sparse or absent eyelashes Dystrophic fingernails Generalized hyperpigmentation Absent eyelashes Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Arnold-Chiari type I malformation Enlarged kidney Premature skin wrinkling Abnormal hair pattern Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Frontal balding Thick upper lip vermilion Endocarditis Hemangioma Abnormal palate morphology Low-set ears Abnormality of the eye Osteopenia Umbilical hernia Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Optic nerve dysplasia Patchy alopecia Macrotia Abnormality of the kidney Irritability Respiratory tract infection Scarring Pectus carinatum Abnormality of the cerebral white matter Hypoplasia of the frontal lobes Polyhydramnios Pulmonic stenosis Functional abnormality of the gastrointestinal tract Hyperextensibility of the finger joints High palate Tongue thrusting Epicanthus Myopia Macrocephaly Downslanted palpebral fissures Prominent forehead Laryngeal cleft Frontal bossing Generalized ichthyosis Thrombocytopenia Pectus excavatum Posteriorly rotated ears Hypermetropia Genu valgum Cutis laxa Fine hair Webbed neck Growth hormone deficiency Progressive visual loss Narrow forehead Coarctation of aorta Low posterior hairline Myocardial infarction Premature birth Inflammatory abnormality of the skin Open mouth Thickened skin Lymphedema Narrow palate Oculomotor apraxia Dental malocclusion Intestinal malrotation Astigmatism Thick vermilion border Dry skin Long face Joint hypermobility Falls Bulbous nose Bruising susceptibility Hepatic steatosis Vesicoureteral reflux High, narrow palate Sleep disturbance Abdominal distention Abnormal bleeding Full cheeks Nevus Proptosis Postural instability Atrial fibrillation Aplasia cutis congenita Hypoplasia of the uterus Congenital glaucoma Abnormality of the ear Aplasia/Hypoplasia of the skin Absent septum pellucidum Anteriorly placed anus Anencephaly Long eyelashes Posterior embryotoxon Cyanosis Male pseudohermaphroditism Sclerocornea Ocular albinism Abnormal eyelid morphology Epidermal acanthosis Albinism Echolalia Abnormality of dental enamel Congenital diaphragmatic hernia Fragile skin Amblyopia Exertional dyspnea Akinesia Ventricular arrhythmia Acanthosis nigricans Preauricular pit Dermal atrophy Patent foramen ovale Clitoral hypertrophy Anophthalmia Ventricular fibrillation Tricuspid regurgitation Retinal dysplasia Supraventricular tachycardia Mitral valve prolapse Sepsis Histiocytoid cardiomyopathy Vitritis Abnormality of the rectum Cleft earlobe Asymmetric, linear skin defects Anal fistula Cleft upper lip Chorioretinal dysplasia Agenesis of molar Spasticity Gingival recession Reduced systolic function Selective tooth agenesis Leukonychia Orbital cyst Abnormal vitreous humor morphology Abnormal blistering of the skin Tricuspid valve prolapse Colpocephaly Periventricular leukomalacia Chordee Abnormality of earlobe Epispadias Abnormal nasolacrimal system morphology Abnormality of the anus Abnormality of the fallopian tube Overriding aorta Mandibular aplasia Abnormality of the penis Ovotestis Functional motor deficit Arteria lusoria Ambiguous genitalia Ventricular extrasystoles Fragile nails IgG deficiency Pulmonary fibrosis Telangiectasia of the skin Myeloid leukemia Acute myeloid leukemia IgA deficiency Hodgkin lymphoma Acute leukemia Squamous cell carcinoma Pneumonia Chromosome breakage Hypoplastic pelvis Chronic lung disease Chronic obstructive pulmonary disease Abnormality of the nose High pitched voice Hand polydactyly Abnormality of chromosome stability Postnatal growth retardation Infertility Lymphoma Decreased antibody level in blood Prominent nose Abnormality of the skin Otitis media Cutaneous photosensitivity Azoospermia Polydactyly Abnormality of the face Bronchiectasis Telangiectasia Sinusitis Narrow face IgM deficiency Decreased fertility in females Hypopigmentation of the skin Coloboma Acantholysis Agenesis of corpus callosum Glaucoma Micropenis Retrognathia Blepharophimosis T-wave inversion Abnormal T-wave Corneal opacity Hypergranulosis Onycholysis Reduced ejection fraction Iris coloboma Clubbing of fingers Hypospadias Prolonged QRS complex Female infertility Intrauterine growth retardation Spotty hyperpigmentation Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Immunodeficiency Intellectual disability, mild Wide nasal bridge Midface retrusion Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Microphthalmia Right ventricular dilatation Myocardial fibrosis Abnormal EKG Ventricular hypertrophy Hypothyroidism Dementia Osteoporosis Abdominal pain Sparse axillary hair Weight loss Fair hair Acidosis Cerebellar hypoplasia Sparse body hair Photophobia Myalgia Anxiety Proteinuria Apnea Rod-cone dystrophy Ridged nail Abnormality of the pinna Comedo Tremor Absent hair Woolly scalp hair Respiratory insufficiency Myopathy Cerebellar atrophy Nail pits Elevated serum creatine phosphokinase Dystonia Renal insufficiency Trichorrhexis nodosa Dry hair Areflexia Hyporeflexia Coarse hair Abnormality of the liver Fever Memory impairment Finger syndactyly Muscle cramps Abnormal cerebellum morphology Sensory impairment Migraine Increased serum lactate Hip dysplasia Polyneuropathy Amenorrhea Cerebral calcification Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Pulmonary arterial hypertension Coma Nephropathy Attention deficit hyperactivity disorder Nausea and vomiting Stroke Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Malabsorption Hirsutism Dysmetria Paresthesia Confusion Lactic acidosis Nausea Polymicrogyria Skeletal muscle atrophy Peripheral neuropathy Parakeratosis Chronic diarrhea Neuronal loss in central nervous system Overgrowth Reticulocytosis Thick lower lip vermilion Progressive neurologic deterioration Autoimmune hemolytic anemia Cholelithiasis Spherocytosis Hydrops fetalis Hyperbilirubinemia Hoarse voice Widely spaced teeth Acne Emotional lability Gliosis Macroglossia Muscle fibrillation Chest pain Agenesis of permanent teeth Hypokinesia Loss of consciousness Oligodontia Brachycephaly Hyperactivity Hepatosplenomegaly Ascites Joint laxity Erythroid hypoplasia Wide mouth Elliptocytosis Platyspondyly Neutropenia Pathologic fracture Thickened calvaria Hypertension Myocarditis Aspartylglucosaminuria Eosinophilia Erythroderma Pustule Blepharitis Hematochezia Villous atrophy Oligosacchariduria Thick nail Recurrent infection of the gastrointestinal tract Hemolytic anemia Otitis externa Muscle weakness Visual impairment Angiofibromas Spondylolysis Palpebral edema Visceromegaly Dysostosis multiplex Beaking of vertebral bodies Macroorchidism Broad face Spondylolisthesis Abnormality of the ovary Vacuolated lymphocytes Angiokeratoma corporis diffusum Facial edema Adenoma sebaceum Hypoplastic frontal sinuses Cranial asymmetry Angiokeratoma Methemoglobinemia Oral aversion



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