Congestive heart failure, and Dry skin

Diseases related with Congestive heart failure and Dry skin

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Dry skin that can help you solving undiagnosed cases.


Top matches:

High match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

High match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

High match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

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Other less relevant matches:

High match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium 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

Medium 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

Low match HELIX SYNDROME; HELIX


HELIX SYNDROME; HELIX Is also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia

Related symptoms:

  • Pain
  • Renal insufficiency
  • Dry skin
  • Ichthyosis
  • Postural instability


SOURCES: OMIM MENDELIAN

More info about HELIX SYNDROME; HELIX

Low match NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME


Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Top 5 symptoms//phenotypes associated to Congestive heart failure and Dry skin

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Dry skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Global developmental delay Alopecia Abnormality of the dentition Nystagmus Ichthyosis Growth delay Cardiomegaly Cardiomyopathy Hearing impairment Constipation Behavioral abnormality Depressivity Muscular hypotonia Mitral regurgitation Decreased body weight Heart murmur Abnormal mitral valve morphology Abnormal aortic valve morphology Generalized hypotonia Ophthalmoplegia Pallor Failure to thrive Abnormal heart valve morphology Inflammatory abnormality of the skin Cognitive impairment Vomiting Alopecia of scalp Hypotrichosis Scarring Ataxia Progressive visual loss Sleep disturbance Kyphosis Edema Renal insufficiency Short neck Delayed speech and language development Feeding difficulties Scoliosis Intellectual disability Sparse eyelashes Elevated hepatic transaminase Hepatosplenomegaly Thickened skin Hyporeflexia Optic atrophy Hypotension Arrhythmia Nephrocalcinosis Abdominal pain Hydrocephalus

Rare Symptoms - Less than 30% cases


Flexion contracture Carious teeth Coarse facial features Umbilical hernia Conductive hearing impairment Retinopathy Abnormal pyramidal sign Nyctalopia Pectus carinatum Dolichocephaly Retinal degeneration Genu valgum Kyphoscoliosis Abnormality of skin pigmentation Hirsutism Thick vermilion border High, narrow palate Full cheeks Asthma Atopic dermatitis Abnormality of the skin Osteopenia Proptosis Dyspnea Long philtrum Depressed nasal bridge Hypertension Macrocephaly Frontal bossing Abnormality of the skeletal system Anteverted nares Respiratory insufficiency Abnormality of the nail Nephrolithiasis Hernia Abnormal facial shape Visual loss Sensorineural hearing impairment Inguinal hernia Micrognathia Pneumonia Recurrent respiratory infections Myocardial infarction Prominent forehead Glaucoma Abnormality of the cardiovascular system Chronic diarrhea Recurrent otitis media Abdominal distention Abnormality of the kidney Irritability Respiratory tract infection Sparse hair Fatigue Hypermetropia Pulmonic stenosis Retinal dystrophy Hepatic steatosis Vesicoureteral reflux Jaundice Growth hormone deficiency Hepatitis Epidermal acanthosis Hyperpigmentation of the skin Macular degeneration Acanthosis nigricans Portal hypertension Chronic otitis media Obsessive-compulsive behavior Polyuria Frontal balding Gastroesophageal reflux Left ventricular hypertrophy Peripheral axonal neuropathy Increased intracranial pressure Generalized hirsutism Abnormality of dental enamel Scaling skin Sleep apnea Pes cavus Thoracic scoliosis Peripheral visual field loss Gingivitis Pulmonary edema Autism Endocardial fibroelastosis Neurological speech impairment Erythema Dysarthria Pain Cataract Blindness Encephalopathy Hyperhidrosis Abnormality of the optic disc Hypertelorism Hydroureter Supranuclear gaze palsy Abnormal bleeding Muscle weakness Recurrent pneumonia Aspiration Oculomotor apraxia Sparse and thin eyebrow Calcification of the aorta Hypokalemia Spasticity Cyanosis Opacification of the corneal stroma Erythroderma Horizontal nystagmus Hypohidrosis Aortic valve stenosis Dilatation Dilated cardiomyopathy Foam cells Apnea Myalgia Supranuclear ophthalmoplegia Respiratory distress Aortic regurgitation Cerebral cortical atrophy Generalized tonic-clonic seizures Myocarditis Hypertonia Corneal opacity Cachexia Neurodevelopmental delay Abnormal renal physiology Hyperglycemia Communicating hydrocephalus Abnormality of the pulmonary artery Albuminuria Sclerosing cholangitis Hypermagnesemia First degree atrioventricular block Hematemesis Abnormality of the musculature Absent hair Renovascular hypertension Melena Abnormal muscle tone Squared iliac bones Female hypogonadism Lumbar scoliosis Hyperbilirubinemia Generalized anhidrosis Impaired temperature sensation Cholestasis Decreased glomerular filtration rate Urethral stricture Hypodontia Abnormal spermatogenesis Chronic infection Urethral obstruction Abnormal chorioretinal morphology Abnormality of the urethra Epigastric pain Abnormality of dental color Hypoplasia of dental enamel Subvalvular aortic stenosis Abnormality of the pituitary gland Cryptorchidism EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Neoplasm Ptosis Abnormal retinal artery morphology Low-set ears High palate Epicanthus Secondary hyperparathyroidism Myopia Downslanted palpebral fissures Dysphagia Ventricular septal defect Precocious puberty in females Widely-spaced incisors Hypoplastic male external genitalia Nonproductive cough Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Abnormal adipose tissue morphology Recurrent cystitis Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Childhood-onset truncal obesity Hepatic encephalopathy Increased total bilirubin Cholangitis Hyperventilation Poor coordination Oligomenorrhea Posterior subcapsular cataract Broad foot Ketoacidosis Pendular nystagmus Insulin-resistant diabetes mellitus Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Tubular atrophy Retinal atrophy Hypoventilation Oligospermia Progressive sensorineural hearing impairment Pericardial effusion Chorioretinal atrophy Concave nail Polyphagia Short finger Agenesis of permanent teeth Glomerulopathy Severe sensorineural hearing impairment Glycosuria Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Pericarditis Autoimmune thrombocytopenia Parakeratosis Male hypogonadism Oligodontia Atrial septal defect Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Achromatopsia Urethral stenosis Abnormality of female external genitalia Arteriosclerosis Hypotrichosis of the scalp Abnormality of blood and blood-forming tissues Multinodular goiter Scarring alopecia of scalp Sparse body hair Bull's eye maculopathy Vertical nystagmus Urinary retention Elevated C-reactive protein level Myocardial fibrosis Thick hair Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Tubulointerstitial fibrosis Menstrual irregularities Orthokeratosis Abnormal renal morphology Retinal pigment epithelial atrophy Disinhibition Abnormal left ventricle morphology Testicular atrophy Ventriculomegaly Posteriorly rotated ears Intellectual disability, severe Abnormality of the auditory canal Abnormal eyelash morphology Arnold-Chiari type I malformation Enlarged kidney Macule Absent eyelashes Hypoplasia of the zygomatic bone Multiple palmar creases Premature skin wrinkling Babinski sign Abnormality of the ulna Abnormality of the gastrointestinal tract Papule Inappropriate crying Facial asymmetry Short attention span Woolly hair Gait ataxia Cerebellar atrophy Abnormal hair pattern Hyperreflexia Aplasia/Hypoplasia of the eyebrow Abnormal retinal morphology Neurofibromas Arthritis Infantile spasms Abnormality of the sternum Long palpebral fissure Multiple cafe-au-lait spots Poor appetite Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Gait disturbance Underdeveloped supraorbital ridges Orthostatic hypotension Thick upper lip vermilion Abnormality of movement Open bite Endocarditis Optic nerve dysplasia Fasciculations Patchy alopecia Abnormal tricuspid valve morphology Anterior creases of earlobe Slow-growing hair Thickened helices Increased nuchal translucency Gastrointestinal dysmotility Limb ataxia Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Urticaria Hypoplasia of the frontal lobes Cutaneous T-cell lymphoma Abnormality of refraction Dystrophic fingernails Morphological abnormality of the gastrointestinal tract Abnormality of the optic nerve Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Puberty and gonadal disorders Abnormal location of ears Dysdiadochokinesis Abnormality of the hairline Hyperkeratosis pilaris Progressive cerebellar ataxia Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Deep palmar crease Malnutrition Large for gestational age Short nose Astigmatism Abnormal cardiac septum morphology Leukemia Alacrima Pruritus Nail dystrophy Heat intolerance Abnormality of the cerebral white matter Xerostomia Feeding difficulties in infancy Long face Joint hypermobility Falls Bulbous nose Bruising susceptibility Palmoplantar keratoderma Nevus Hypocalciuria Abnormality of the eye Premature birth Clinodactyly of the 5th finger Malar flattening Cerebral atrophy Abnormality of cardiovascular system morphology Thrombocytopenia Pectus excavatum Abnormal heart morphology Delayed skeletal maturation Intention tremor Low-set, posteriorly rotated ears Polyhydramnios High forehead Macrotia EEG abnormality Hydronephrosis Aggressive behavior Hypertrophic cardiomyopathy Telecanthus Intestinal malrotation Hyperparathyroidism Absent eyebrow Oral aversion Relative macrocephaly Poor suck Hyperextensible skin Deep philtrum Redundant skin Brittle hair Failure to thrive in infancy Bilateral ptosis Palmoplantar hyperkeratosis Sparse eyebrow Multiple plantar creases Pleural effusion Ectropion Eyelid fasciculation Melanocytic nevus Cubitus valgus Acute hepatitis Abnormality of vision Optic nerve hypoplasia Dental malocclusion Open mouth Webbed neck Narrow forehead Coarctation of aorta Low posterior hairline Fine hair Anhidrosis Hemiparesis Cafe-au-lait spot Postural instability Lymphedema Cerebral visual impairment Narrow palate Cutis laxa Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Hemangioma Abnormality of the genitourinary system Delayed gross motor development Proteinuria Truncal obesity Abnormal form of the vertebral bodies Abnormality of the ribs Lumbar hyperlordosis Intellectual disability, profound Interphalangeal joint contracture of finger Progressive neurologic deterioration Hypertrichosis Split hand Encephalocele Hip dysplasia Long eyelashes Abnormality of epiphysis morphology Gingival overgrowth Exotropia Abnormal vertebral morphology Elbow flexion contracture Coxa valga Microdontia Limitation of joint mobility Coxa vara Synophrys Mental deterioration Joint stiffness Wide mouth Craniosynostosis Camptodactyly of finger Stroke Severe global developmental delay Abnormality of eye movement Broad nasal tip Thick eyebrow Wide nose Inability to walk Everted lower lip vermilion Neurodegeneration Delayed eruption of teeth Macroglossia Spastic paraparesis Cerebral palsy Headache Abnormality of the skull Hypoplasia of the odontoid process Palpebral edema Protuberant abdomen Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Abnormality of the clavicle Protruding tongue Diastasis recti Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Large earlobe Upper airway obstruction Short clavicles Rhinitis Widely spaced teeth Language impairment Progressive hearing impairment Corneal dystrophy Hyperammonemia Recurrent upper respiratory tract infections Prominent supraorbital ridges Back pain Hemiplegia Stridor Spinal canal stenosis Toe walking Metatarsus adductus Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Restrictive ventilatory defect Thickened calvaria Arthropathy Skeletal dysplasia Diarrhea Angina pectoris Ventricular hypertrophy Writer's cramp Hypocalcemic seizures Cortical myoclonus Laryngospasm Hypermagnesiuria Brachycephaly Pancytopenia Exertional dyspnea Abnormal pattern of respiration Abnormal EKG Mitral stenosis Abnormal aortic morphology Reticular hyperpigmentation Aortic valve calcification Abnormal saccadic eye movements Corneal crystals Increased circulating renin level Tetany Spontaneous, recurrent epistaxis Reduced bone mineral density Anxiety Paresthesia Muscle cramps Eczema EMG abnormality Hypocalcemia Abnormality of the fingernails Hypercalciuria Reduced consciousness/confusion Emotional lability Basal ganglia calcification Fatigable weakness Irregular hyperpigmentation Hypoparathyroidism Hypomagnesemia Hyperphosphatemia Mitral valve calcification Abnormal aortic arch morphology Skeletal muscle atrophy Hypoketotic hypoglycemia Sacral dimple Ventricular fibrillation Bilateral talipes equinovarus Abnormality of coagulation Lipoatrophy Microcytic anemia Epileptic spasms Congenital hepatic fibrosis Leukopenia Aplasia/Hypoplasia of the nipples Type I transferrin isoform profile Reduced antithrombin III activity Abnormal isoelectric focusing of serum transferrin Adactyly Aplasia of the fingers Wide nasal bridge Ventricular tachycardia Severe muscular hypotonia Elevated serum acid phosphatase Aortic arch calcification Bacterial endocarditis Decreased beta-glucocerebrosidase protein and activity Abnormality of toe Cardiac valve calcification Slowed horizontal saccades Hypometric horizontal saccades Abnormal common carotid artery morphology Cardiovascular calcification Bradycardia Absent speech Elevated serum creatine phosphokinase Hypoglycemia Neutropenia Tetraplegia Hypsarrhythmia Thin skin Postnatal microcephaly Hypoplastic ilia Conical tooth Urinary urgency Round face Nausea Cirrhosis Tachycardia Hepatic failure Nephropathy Ascites Urinary incontinence Gastrointestinal hemorrhage Lymphadenopathy Otitis media Decreased testicular size Specific learning disability Pigmentary retinopathy Optic disc pallor Type II diabetes mellitus Pulmonary arterial hypertension Stage 5 chronic kidney disease Infertility Involuntary movements Weight loss Patent ductus arteriosus Rod-cone dystrophy Myoclonus Hypogonadism Diabetes mellitus Polydactyly Respiratory failure Hypothyroidism Delayed puberty Pes planus Photophobia Deeply set eye Postnatal growth retardation Autistic behavior Abnormality of the liver Cough Hypertriglyceridemia Recurrent urinary tract infections Obesity Aplasia/Hypoplasia of the cerebellum Cholelithiasis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Lipodystrophy Polydipsia Nephritis Constriction of peripheral visual field Polycystic ovaries Impaired vibratory sensation Acne Hyperostosis Diabetes insipidus Glucose intolerance Emphysema Pulmonary fibrosis Abnormality of the hand Goiter Anorexia Hypergonadotropic hypogonadism Abnormality of retinal pigmentation Insulin resistance Decreased liver function Hepatic fibrosis Sinusitis Gynecomastia Short toe Increased body weight Cone/cone-rod dystrophy Hypogonadotrophic hypogonadism Absence seizures Accelerated skeletal maturation Atherosclerosis Hyperlipidemia Pancreatitis Hypercholesterolemia Tachypnea Clinodactyly Dystonia Cor pulmonale J-shaped sella turcica Anterior open bite Meckel diverticulum Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Abnormality of the gingiva Difficulty standing Atlantoaxial dislocation Hip subluxation Heparan sulfate excretion in urine Abnormal hand morphology Enlargement of the wrists Abnormality of the middle ear ossicles Cervical myelopathy Abnormal nerve conduction velocity Sclerosis of skull base Thoracolumbar kyphoscoliosis Rhinorrhea Flared iliac wings Seborrheic dermatitis Constrictive median neuropathy Hypoplasia of teeth Sagittal craniosynostosis Myelopathy Abnormality of peripheral nerve conduction Broad femoral neck Large face Delayed ossification of carpal bones Diaphyseal thickening Abnormal diaphysis morphology Recurrent ear infections Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Calvarial hyperostosis Hernia of the abdominal wall Peripheral neuropathy Abnormality of glycosaminoglycan metabolism Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of the tympanic membrane Delayed tarsal ossification Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Visual impairment Motor delay Thick skull base Abnormality of joint mobility Urinary glycosaminoglycan excretion Hypoplasia of the femoral head Short mandibular rami Cervical kyphosis Abnormal CNS myelination Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Calcification of falx cerebri Broad ischia Abnormality of the tonsils C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Abnormality of lysosomal metabolism Flaring of rib cage Impaired smooth pursuit



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