Fever, and Carious teeth

Diseases related with Fever and Carious teeth

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

Top matches:

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.

HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME Is also known as shaheen syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Delayed speech and language development
  • Fever
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROSIS-ENAMEL HYPOPLASIA-PALMOPLANTAR KERATODERMA-INTELLECTUAL DISABILITY SYNDROME

High match CAFFEY DISEASE

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

High match WHIM SYNDROME

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Other less relevant matches:

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

High 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

Top 5 symptoms//phenotypes associated to Fever and Carious teeth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Feeding difficulties in infancy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Carious teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia Kyphosis Global developmental delay Syndactyly Apnea Feeding difficulties Depressed nasal bridge Hyperkeratosis Kyphoscoliosis Polymicrogyria Decreased antibody level in blood Nystagmus Carcinoma Immunodeficiency Sudden cardiac death Dolichocephaly Attention deficit hyperactivity disorder Peripheral neuropathy Congestive heart failure Hypogonadotrophic hypogonadism Recurrent infections Hyperhidrosis Cognitive impairment Hearing impairment Keratitis Photophobia Cryptorchidism Hypertelorism Radial deviation of finger Round face Full cheeks Micrognathia Low-set ears High palate Anteverted nares Neoplasm Clinodactyly Respiratory insufficiency Delayed speech and language development Pulmonary embolism Irritability Short palm Microcephaly Hypohidrosis Short stature Behavioral abnormality

Rare Symptoms - Less than 30% cases

Anal atresia Malar flattening Recurrent respiratory infections Micropenis Vomiting Blepharophimosis Cachexia Growth hormone deficiency Oligohydramnios Myopathy Cleft palate Generalized hypopigmentation Delayed puberty Ventriculomegaly Talipes equinovarus Xerostomia Unexplained fevers Abnormality of the dentition Protruding ear Stroke Abnormality of the pinna Autism Facial palsy Weight loss Diabetes mellitus Camptodactyly Abnormality of the foot Cold-induced sweating Hypogonadism Osteoporosis Elbow flexion contracture Poor suck Opisthotonus Limited elbow extension Trismus Respiratory distress Short neck Hip dysplasia Intellectual disability, severe Constipation Cataract Ptosis Myopia Optic atrophy Headache Visual loss Psychosis Abdominal pain Type II diabetes mellitus Confusion Adrenal insufficiency Abnormality of retinal pigmentation Generalized hirsutism Psychotic episodes Multiple lipomas Decreased muscle mass Goiter Abnormal facial shape Abnormality of the cardiovascular system Hypertonia Dyspnea Growth abnormality Specific learning disability Hypertension Motor delay Muscular hypotonia Short nose Renal insufficiency Narrow mouth Failure to thrive Hypopnea Growth delay Tapered finger Amenorrhea Generalized-onset seizure Nasal speech Overlapping toe Disproportionate tall stature Temperature instability Strabismus Pruritus Long philtrum Respiratory failure Heat intolerance Polyhydramnios Facial asymmetry Hyperostosis Episodic fever Impaired pain sensation Leukocytosis Cellulitis Generalized hypotonia Recurrent corneal erosions Hyperactivity Abnormal autonomic nervous system physiology Hip dislocation Nail dysplasia Calvarial hyperostosis Recurrent urinary tract infections Thickened skin Febrile seizures Proptosis Emotional lability Edema Flexion contracture Palmoplantar hyperkeratosis Anhidrosis Sinusitis Ectodermal dysplasia Respiratory tract infection Osteomyelitis Muscle weakness Skeletal muscle atrophy Dysarthria Abnormal nerve conduction velocity Anemia Auditory hallucinations Hemeralopia Hyperreflexia Hepatomegaly Abnormal macular morphology Proteinuria Visual impairment Acromicria Sensorineural hearing impairment Spotty hypopigmentation Ataxia Tremor Poor gross motor coordination Almond-shaped palpebral fissure Narrow palm Paronychia Hypoplastic labia minora Central adrenal insufficiency Triangular mouth Disseminated intravascular coagulation Amaurosis fugax Crohn's disease Gait disturbance Abnormality of the cerebellar vermis Areflexia Renal Fanconi syndrome Gait ataxia Hypothyroidism Acidosis Gastroesophageal reflux Myoclonus Dementia Jaundice Rod-cone dystrophy EEG abnormality Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Myalgia Cerebral cortical atrophy Arrhythmia Encephalopathy Depressivity Frontal upsweep of hair Cerebral atrophy Anxiety Dystonia Diarrhea Cerebellar atrophy Blindness Tubulointerstitial abnormality Cardiomyopathy Dysphagia Fatigue Erysipelas Chromosome breakage Clitoral hypoplasia Cochlear malformation Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Narrow forehead Decreased fetal movement Cutaneous photosensitivity Homonymous hemianopia Primary amenorrhea Clumsiness Insulin resistance Bradycardia Aortic valve stenosis Increased body weight Abnormal cochlea morphology Abnormality of acid-base homeostasis Narrow palpebral fissure Short foot Genu valgum Morphological abnormality of the inner ear Infertility Arachnodactyly Downturned corners of mouth Small hand Morphological abnormality of the vestibule of the inner ear Esotropia Bilateral intracranial calcifications Sleep disturbance Episodic quadriplegia Hypopigmentation of the skin Sepsis Gastrointestinal hemorrhage Spontaneous abortion Bicuspid aortic valve Anteverted ears Acrocyanosis Hypoventilation Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Overweight Oligomenorrhea Hypoplasia of the fovea Striae distensae Ocular albinism Hypothermia Abnormal mitochondrial morphology Cor pulmonale Abdominal obesity Poor fine motor coordination Hypopigmentation of hair Myeloid leukemia Sleep apnea Inflammation of the large intestine Scrotal hypoplasia Infantile muscular hypotonia Failure to thrive in infancy Precocious puberty Hyperinsulinemia Large hands Glucose intolerance Narrow nasal bridge Albinism Skeletal muscle hypertrophy Edema of the dorsum of hands Truncal obesity External genital hypoplasia Polyphagia Hypertrophic cardiomyopathy Writer's cramp Mental deterioration Personality changes Aortic aneurysm Abnormality of mitochondrial metabolism Cerebral ischemia Hyponatremia Ophthalmoparesis Wolff-Parkinson-White syndrome Intestinal obstruction Bilateral ptosis Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Hemiplegia Hypercalciuria Aphasia Ragged-red muscle fibers Exercise intolerance Purpura Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ischemic stroke Decreased nerve conduction velocity Hypopigmented skin patches Mutism Schizophrenia Hyperkinesis Easy fatigability Chronic kidney disease Atrioventricular block Bundle branch block Vestibular dysfunction Type I diabetes mellitus Drowsiness Abnormality of immune system physiology Posterior subcapsular cataract Primary adrenal insufficiency Distal arthrogryposis Progressive external ophthalmoplegia Mitochondrial myopathy Atopic dermatitis Delusions Hypoparathyroidism Heart block Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Abnormality of visual evoked potentials Transient ischemic attack Thyroiditis Increased CSF lactate Visual hallucinations Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Rhabdomyolysis Basal ganglia calcification Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Hyperthyroidism Cardiorespiratory arrest Reduced consciousness/confusion EMG abnormality Developmental regression Vertigo Episodic vomiting Malabsorption Dysmetria Abnormality of the renal tubule Paresthesia Ichthyosis Peripheral axonal neuropathy Dysesthesia Hemianopia Ileus Lactic acidosis Nausea Hirsutism Proximal tubulopathy Motor polyneuropathy Nausea and vomiting Nephropathy Nyctalopia Gastroparesis Erythema Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Abnormality of the liver Neurological speech impairment Congenital cataract Dilated cardiomyopathy Muscle fiber atrophy Psychomotor deterioration Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of peripheral nerve conduction Polyneuropathy Truncal ataxia Involuntary movements Pulmonary arterial hypertension Status epilepticus Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Decreased body weight Bilateral sensorineural hearing impairment Left ventricular hypertrophy Anorexia Hallucinations Cerebral visual impairment Clonus Cardiac arrest Nephrotic syndrome Pigmentary retinopathy Coma Anterior hypopituitarism Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Postural instability Gait imbalance Cerebral calcification Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sensory impairment Migraine Increased serum lactate Memory impairment Gingival overgrowth Deep venous thrombosis Hypermetropia Sparse scalp hair Hypoplasia of the maxilla Hypodontia Broad nasal tip Vesicoureteral reflux Renal agenesis Microdontia Choanal atresia Oral cleft Split hand Thin skin Omphalocele Abnormality of the genital system Renal dysplasia Sparse and thin eyebrow Pulmonary hypoplasia Cleft upper lip Sparse eyelashes Polydactyly Renal cell carcinoma Thoracolumbar scoliosis Excessive salivation Inguinal hernia Alopecia Posteriorly rotated ears Conductive hearing impairment Toe syndactyly Hydronephrosis Telecanthus Cleft lip Microtia Short philtrum Small for gestational age Conjunctivitis Oligodontia Cubitus valgus Nasolacrimal duct obstruction Rectovaginal fistula Sparse pubic hair Hypoplasia of the thymus Bladder diverticulum Central diabetes insipidus Selective tooth agenesis Duplicated collecting system Sparse axillary hair Abnormality of the nasopharynx Nail pits Ureterocele Semilobar holoprosencephaly Dacryocystitis Urethral atresia Dysuria Anodontia Abnormality of the genitourinary system Hypopituitarism Abnormality of the urinary system Preaxial polydactyly Hand polydactyly Epiphora Hydroureter Absent septum pellucidum Ectrodactyly Fair hair Hypoplastic nipples Blepharitis Split foot Bilateral cleft lip Depressed nasal tip Blue irides 2-3 toe syndactyly Scaling skin Transverse vaginal septum Otitis media Periosteal thickening of long tubular bones Cortical irregularity Pneumonia Arthritis Neutropenia Lymphoma Bronchiectasis Cortical thickening of long bone diaphyses Meningitis Recurrent bacterial infections Recurrent upper respiratory tract infections Combined immunodeficiency IgG deficiency Periodontitis Hyperesthesia Anasarca Verrucae Severe short stature Hepatitis Hypoplasia of dental enamel Postnatal microcephaly Mild microcephaly Abnormality of the skeletal system Hernia Hydrops fetalis Thoracic dysplasia Disproportionate short-limb short stature Bowing of the legs Increased antibody level in blood Tibial bowing Restlessness Thrombocytosis B-cell lymphoma Atelectasis Sensorimotor neuropathy Palmar hyperkeratosis Lichenification Pain insensitivity Corneal scarring Hypotrichosis of the scalp Abnormality of dental color Corneal ulceration Acral ulceration Lack of skin elasticity Neuropathic arthropathy Autoamputation of digits Decreased number of small peripheral myelinated nerve fibers Postural hypotension with compensatory tachycardia Hyperlordosis Lumbar hyperlordosis Poor wound healing Self-mutilation Abnormality of female internal genitalia Bone marrow hypercellularity Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Hypersegmentation of neutrophil nuclei Myelokathexis Aseptic necrosis Corneal opacity Nail dystrophy Sensory neuropathy Skin ulcer Opacification of the corneal stroma Self-injurious behavior Bowel incontinence Abnormal salivary gland morphology Absence of Stensen duct Leukemia Asymmetric growth Myofibrillar myopathy Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetry of the thorax Arterial thrombosis Vascular skin abnormality Thrombophlebitis Generalized hyperkeratosis Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Buphthalmos Anisocytosis Keloids Abnormality of finger Neoplasm of the lung Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Abnormality of the wrist Hemihypertrophy Macroorchidism Meningioma Varicose veins Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Nephrogenic diabetes insipidus Upper limb asymmetry Irregular hyperpigmentation Obesity Hypertrophy of skin of soles Mandibular hyperostosis Epicanthus Intrauterine growth retardation Intellectual disability, mild Dilatation Prominent forehead Connective tissue nevi Upslanted palpebral fissure Osteopenia Thin upper lip vermilion Hypoglycemia Neonatal hypotonia Abnormality of the nervous system Depigmentation/hyperpigmentation of skin Central heterochromia Testicular neoplasm Narrow internal auditory canal Lymphangioma Epidermal nevus Metatarsus valgus Portal vein thrombosis Macrodactyly Sirenomelia Facial hyperostosis Neoplasm of the thymus Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Abnormal lung lobation Spinal canal stenosis Slow-growing scalp hair Facial tics Central apnea Large face Velopharyngeal insufficiency Bilateral camptodactyly Hypernatremic dehydration Smooth tongue Macrocephaly Malignant hyperthermia Downslanted palpebral fissures Splenomegaly Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Glaucoma Macrotia Narrow nose Acute kidney injury Intellectual disability, moderate Falls Spasticity Wide nasal bridge Hypoplasia of the corpus callosum Mandibular prognathia Retrognathia Pes planus Wide nose Adducted thumb Highly arched eyebrow Limitation of joint mobility Underdeveloped nasal alae Cyanosis Dehydration Interphalangeal joint contracture of finger Skeletal dysplasia Joint stiffness Generalized hyperpigmentation Melanocytic nevus Venous thrombosis Hemangioma Abnormality of the metacarpal bones Reduced number of teeth Lipodystrophy Chorioretinal coloboma Diabetes insipidus Abnormality of the nail Hallux valgus Pericardial effusion Neurofibromas Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Abnormality of dental enamel Lymphopenia Craniosynostosis Nevus Finger syndactyly Abnormality of skin pigmentation Long face Renal cyst Abdominal distention Gliosis Overgrowth Abnormal vertebral morphology High myopia Epidermal acanthosis Open mouth Abnormal form of the vertebral bodies Heterotopia Subcutaneous nodule Lymphedema Prominent ear helix


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