Carcinoma, and Clinodactyly of the 5th finger
Diseases related with Carcinoma and Clinodactyly of the 5th finger
In the following list you will find some of the most common rare diseases related to Carcinoma and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.
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Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).
ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Growth delay
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ALAGILLE SYNDROME 1; ALGS1
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
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about FANCONI ANEMIA
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BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Micrognathia
- Cryptorchidism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE
Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.
PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome
Related symptoms:
- Short stature
- Growth delay
- Neoplasm
- Micrognathia
- Pain
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME
Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Growth delay
- Nystagmus
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about PORPHYRIA VARIEGATA
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
Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about COSTELLO SYNDROME
15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3
Related symptoms:
- Seizures
- Schizophrenia
- Bipolar affective disorder
SOURCES:
MESH
MENDELIAN
More info about 15Q13.3 MICRODELETION SYNDROME
Top 5 symptoms//phenotypes associated to Carcinoma and Clinodactyly of the 5th finger
Symptoms // Phenotype |
% cases |
Neoplasm |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Growth delay |
Common - Between 50% and 80% cases
|
Micrognathia |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Carcinoma and Clinodactyly of the 5th finger. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Clinodactyly
Uncommon Symptoms - Between 30% and 50% cases
Depressed nasal bridge
Hypertelorism
Abnormal facial shape
Global developmental delay
Scoliosis
Nystagmus
Hypopigmentation of the skin
Pain
Ptosis
Anteverted nares
Coarse facial features
Seizures
Kyphoscoliosis
Abnormality of the skeletal system
Strabismus
Hearing impairment
Cryptorchidism
Cataract
Failure to thrive
Frontal bossing
Proptosis
Abdominal pain
Feeding difficulties
Long philtrum
Abnormality of skin pigmentation
Fever
Decreased body weight
Low-set ears
Triangular face
Round face
Hepatocellular carcinoma
Cafe-au-lait spot
Abnormal vertebral morphology
Lymphedema
Epicanthus
High palate
Abnormality of cardiovascular system morphology
Abnormality of the kidney
Hepatomegaly
Renal insufficiency
Atrial septal defect
Delayed skeletal maturation
Upslanted palpebral fissure
Downslanted palpebral fissures
Intrauterine growth retardation
Myopia
Hypertension
Hip dislocation
Rare Symptoms - Less than 30% cases
Bone marrow hypocellularity
Apnea
Keratoconus
Hyperhidrosis
Abnormality of dental enamel
Tetraplegia
Hypopigmented skin patches
Hemangioma
Narrow palate
Severe short stature
Long eyelashes
Sparse hair
Anemia
Feeding difficulties in infancy
Microcephaly
Lipodystrophy
Delayed speech and language development
Ventriculomegaly
Hypogonadism
Astigmatism
Kyphosis
Hyperkeratosis
Irritability
Hypertrophic cardiomyopathy
Constipation
Thick upper lip vermilion
Finger syndactyly
Postnatal growth retardation
Headache
Microphthalmia
Syndactyly
Hydrocephalus
Abnormality of the foot
Dolichocephaly
Carious teeth
Full cheeks
Macrocephaly
Facial asymmetry
Confusion
Pes planus
Poor suck
Epidermal acanthosis
Intellectual disability, moderate
Nevus
Tachycardia
Irregular hyperpigmentation
Overgrowth
Pulmonic stenosis
Pectus excavatum
Tetralogy of Fallot
Abnormality of the testis
Multiple cafe-au-lait spots
Prominent nose
Bulbous nose
Joint hypermobility
Hepatic failure
Blepharophimosis
Anal atresia
Delayed puberty
Duodenal stenosis
Elbow flexion contracture
Scarring
Abnormality of the liver
Craniosynostosis
Protruding ear
Conductive hearing impairment
Arteriovenous malformation
Deeply set eye
Macrotia
Visual loss
Intellectual disability, mild
Congestive heart failure
Ventricular septal defect
Prominent nasal bridge
Flexion contracture
Muscle weakness
Pointed chin
Generalized hyperpigmentation
Heart murmur
Abnormal heart morphology
Hypoplasia of the ulna
Renal hypoplasia/aplasia
Peripheral neuropathy
Ovarian neoplasm
Chromosome breakage
Abnormal form of the vertebral bodies
2-3 toe syndactyly
Cerebral atrophy
Ovarian carcinoma
Low anterior hairline
Limited elbow extension
Macrodontia
Absent speech
Opisthotonus
Hernia
Arrhythmia
Proximal placement of thumb
Posteriorly rotated ears
Pes cavus
Breast carcinoma
Inguinal hernia
Thoracolumbar scoliosis
Dental malocclusion
Cardiomyopathy
Talipes equinovarus
Trismus
Renal cell carcinoma
Respiratory insufficiency
Dysarthria
Excessive salivation
Motor delay
Short neck
Unexplained fevers
Dysphagia
Cold-induced sweating
Edema
Cognitive impairment
Muscular hypotonia
Myopathy
Generalized hypotonia
Abnormality of the dentition
Short nose
Stomach cancer
Milia
Radial deviation of finger
Scrotal hypoplasia
Depressivity
Diarrhea
Vomiting
Fulminant hepatic failure
Thoracic kyphoscoliosis
Down-sloping shoulders
Thoracic kyphosis
Posterior subcapsular cataract
Subcapsular cataract
Premature graying of hair
Single transverse palmar crease
Skeletal muscle atrophy
Thin vermilion border
Paralysis
Smooth philtrum
Narrow mouth
Wide nasal bridge
Abnormality of the preputium
Pyridoxine-responsive sideroblastic anemia
Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of the uvula
Neoplasm of head and neck
Deficient excision of UV-induced pyrimidine dimers in DNA
Anemic pallor
Prolonged G2 phase of cell cycle
Abnormal carotid artery morphology
Anxiety
Nausea and vomiting
Cubitus valgus
Visual hallucinations
Scaling skin
Abnormal autonomic nervous system physiology
Sensorimotor neuropathy
Lumbar hyperlordosis
Hyperlordosis
Camptodactyly
Facial palsy
Porphyrinuria
Premature adrenarche
Dark urine
Motor polyneuropathy
Neoplasm of the liver
Insomnia
Nausea
Restlessness
Fragile skin
Cerebral cortical atrophy
Agitation
Chronic kidney disease
Aspiration
Hallucinations
Thin skin
Hypertrichosis
Cutaneous photosensitivity
Psychosis
Abnormal blistering of the skin
Osteoporosis
Cutis laxa
Respiratory failure
Abnormality of earlobe
Concave nail
Pneumothorax
Hyperextensibility of the finger joints
Rhabdomyosarcoma
Broad femoral neck
Schwannoma
Limited elbow movement
Fasting hypoglycemia
Fetal distress
Bronchomalacia
Papilloma
Large face
Thin nail
Deep plantar creases
Hypoplasia of teeth
Broad philtrum
Melena
Large forehead
Megalencephaly
Barrel-shaped chest
Progeroid facial appearance
Woolly hair
Large earlobe
Achilles tendon contracture
Verrucae
Abnormal mitral valve morphology
Central apnea
Lack of skin elasticity
Redundant neck skin
Labial hypoplasia
Deep palmar crease
Asymmetric septal hypertrophy
Hematemesis
Triangular mouth
Thickened nuchal skin fold
Tendon rupture
Cardiomyocyte hypertrophy
Loose anagen hair
Macrocephaly at birth
Enlarged cerebellum
Myofiber disarray
Vitreomacular adhesion
Alveolar rhabdomyosarcoma
Choroid plexus papilloma
Lymphangiectasis
Congenital neuroblastoma
Thickened Achilles tendon
Systolic heart murmur
Increased corneal curvature
Schizophrenia
Bladder carcinoma
Neonatal sepsis
Capillary malformation
Shyness
Bladder neoplasm
Abnormal pulmonary valve morphology
Duodenal ulcer
Ulnar deviation of the wrist
Body odor
Postprandial hyperglycemia
Hypopnea
Multifocal atrial tachycardia
Concentric hypertrophic cardiomyopathy
Transitional cell carcinoma of the bladder
Ganglioneuroblastoma
Frontal hirsutism
Vestibular Schwannoma
Deep-set nails
Embryonal rhabdomyosarcoma
Fragile nails
Microscopic hematuria
Polyhydramnios
Eczema
Sepsis
Premature birth
Webbed neck
Growth hormone deficiency
Abnormality of the skin
Hip dysplasia
Mitral valve prolapse
Ascites
Apraxia
Thick lower lip vermilion
Atrial fibrillation
Hypoplasia of dental enamel
Hyperpigmentation of the skin
Wide anterior fontanel
Macroglossia
Postural instability
Abnormality of the hair
Wide mouth
Gastroesophageal reflux
Osteopenia
Hypoglycemia
Abnormality of the nervous system
Joint laxity
Low-set, posteriorly rotated ears
Pectus carinatum
Sleep disturbance
Arthrogryposis multiplex congenita
Hypermetropia
Joint hyperflexibility
Wide nose
Thick vermilion border
Hematuria
High, narrow palate
Hydrops fetalis
Hoarse voice
Severe postnatal growth retardation
Ulnar deviation of finger
Large for gestational age
Neurodevelopmental delay
Reduced subcutaneous adipose tissue
Curly hair
Neuroblastoma
Rhabdomyolysis
Tracheomalacia
Tricuspid regurgitation
Central hypotonia
Syringomyelia
Arnold-Chiari type I malformation
Neonatal hypoglycemia
Soft skin
Obstructive sleep apnea
Rocker bottom foot
Hypoplastic toenails
Short chin
Relative macrocephaly
Abnormality of the fingernails
Acanthosis nigricans
Compensated hypothyroidism
Abnormal dermatoglyphics
Infantile muscular hypotonia
Arnold-Chiari malformation
Laryngomalacia
Bilateral cryptorchidism
Hyperextensible skin
Pyloric stenosis
Redundant skin
Failure to thrive in infancy
Aortic aneurysm
Pleural effusion
Hyperglycemia
Almond-shaped palpebral fissure
Hypergonadotropic hypogonadism
Absent testis
Skeletal dysplasia
Thickened skin
Subcutaneous nodule
Heterotopia
Open mouth
High myopia
Decreased antibody level in blood
Gliosis
Sudden cardiac death
Abdominal distention
Renal cyst
Polymicrogyria
Long face
Joint stiffness
Glaucoma
Sinusitis
Recurrent infections
Immunodeficiency
Splenomegaly
Optic atrophy
Butterfly vertebral arch
Reduced number of intrahepatic bile ducts
Rectourethral fistula
Unicoronal synostosis
Intrahepatic biliary atresia
Chronic hepatic failure
Multiple small medullary renal cysts
Renal artery stenosis
Vitamin D deficiency
Axenfeld anomaly
Abnormality of retinal pigmentation
Lymphopenia
Band keratopathy
Pericardial effusion
Abnormality of the wrist
Abnormality of finger
Spinal cord compression
Capillary hemangioma
Papilledema
Exostoses
Lipoma
Neoplasm of the lung
Abnormal lung lobation
Spinal canal stenosis
Pulmonary embolism
Hamartoma
Multiple lipomas
Neurofibromas
Disproportionate tall stature
Abnormality of the nail
Hallux valgus
Decreased muscle mass
Diabetes insipidus
Hyperostosis
Melanocytic nevus
Chorioretinal coloboma
Cachexia
Growth abnormality
Reduced number of teeth
Palmoplantar hyperkeratosis
Goiter
Abnormality of the metacarpal bones
Venous thrombosis
Generalized hirsutism
Papillary thyroid carcinoma
Biliary atresia
Meningioma
Cirrhosis
Cholestasis
Hypertriglyceridemia
Renal hypoplasia
Nephrotic syndrome
Coarctation of aorta
Abnormality of the ribs
Pigmentary retinopathy
Specific learning disability
Gastrointestinal hemorrhage
Vesicoureteral reflux
Hypodontia
Microcornea
Short distal phalanx of finger
Flat face
Stage 5 chronic kidney disease
Exotropia
Malabsorption
Pruritus
Broad forehead
Short philtrum
Stroke
Retinopathy
Elevated hepatic transaminase
Hepatosplenomegaly
Jaundice
Acidosis
Brachycephaly
Prominent forehead
Areflexia
Dilatation
Renal dysplasia
Hemivertebrae
Abnormal anterior chamber morphology
Exocrine pancreatic insufficiency
Butterfly vertebrae
Arterial stenosis
Hypopigmentation of the fundus
Fat malabsorption
Peripheral pulmonary artery stenosis
Abnormal pupil morphology
Thyroid carcinoma
Cholestatic liver disease
Peripheral arterial stenosis
Intrahepatic cholestasis
Coronal craniosynostosis
Pulmonary artery stenosis
Abnormality of the vasculature
Dilatation of the cerebral artery
Posterior embryotoxon
Multicystic kidney dysplasia
Abnormality of the ureter
Renal tubular acidosis
Telangiectasia of the skin
Prolonged neonatal jaundice
Long nose
Chorioretinal atrophy
Vertebral segmentation defect
Malnutrition
Glomerulosclerosis
Portal hypertension
Corneal dystrophy
Hypercholesterolemia
Spina bifida occulta
Finger clinodactyly
Macroorchidism
Deep venous thrombosis
Hypoplastic anemia
Azoospermia
Myeloid leukemia
Absent thumb
Hydroureter
Ectopic kidney
Squamous cell carcinoma
Glucose intolerance
Tracheoesophageal fistula
Triphalangeal thumb
Myelodysplasia
Hyperinsulinemia
Abnormality of the urinary system
Abnormality of vision
Reduced bone mineral density
Cranial nerve paralysis
Leukopenia
Abnormality of blood and blood-forming tissues
Type I diabetes mellitus
Horseshoe kidney
Spina bifida
Insulin resistance
Short thumb
Telangiectasia
Recurrent urinary tract infections
Aganglionic megacolon
Abnormality of the genital system
Choanal atresia
Short palpebral fissure
Pancytopenia
Oligohydramnios
Sloping forehead
Acute myeloid leukemia
Absent radius
Lymphoma
Abnormal localization of kidney
Chromosomal breakage induced by crosslinking agents
Decreased fertility in males
Clubbing of toes
Partial duplication of thumb phalanx
Complete duplication of thumb phalanx
Aplasia/Hypoplasia of the iris
Low-grade fever
Meckel diverticulum
Duplicated collecting system
Primary hypothyroidism
Abnormality of nervous system morphology
Abnormal aortic morphology
Reticulocytopenia
Abnormality of chromosome stability
Abnormal renal morphology
Aplasia/Hypoplasia of the radius
Abnormal aortic valve morphology
Abnormality of the hypothalamus-pituitary axis
Acute monocytic leukemia
Abnormality of femur morphology
Bicornuate uterus
Abnormality of the thumb
Abnormality of the uterus
Aplastic anemia
Abnormality of the upper limb
B-cell lymphoma
Abnormality of the ulna
Abnormal eyelid morphology
Hearing abnormality
External ear malformation
Renal agenesis
Neutropenia
Varicose veins
Thrombophlebitis
Macrodactyly
Portal vein thrombosis
Calvarial hyperostosis
Metatarsus valgus
Epidermal nevus
Lymphangioma
Testicular neoplasm
Upper limb asymmetry
Keloids
Nephrogenic diabetes insipidus
Epibulbar dermoid
Venous malformation
Neoplasm of the central nervous system
Generalized hyperkeratosis
Vascular skin abnormality
Narrow internal auditory canal
Asymmetry of the thorax
Asymmetric growth
Enlarged polycystic ovaries
Thick nasal alae
Visceral angiomatosis
Long penis
Thin bony cortex
Myofibrillar myopathy
Buphthalmos
Arterial thrombosis
Anisocytosis
Hemihypertrophy
Abnormality of the neck
Lower limb asymmetry
Sirenomelia
Facial hyperostosis
Bruising susceptibility
Fatigue
Vertigo
Toe syndactyly
Small for gestational age
Leukemia
Abnormal cardiac septum morphology
Abnormality of the eye
Umbilical hernia
Hypothyroidism
Weight loss
Diabetes mellitus
Patent ductus arteriosus
Hypospadias
Thrombocytopenia
Respiratory distress
Hyperreflexia
Nevus sebaceous
Visual impairment
Cleft palate
Ataxia
Mandibular hyperostosis
Hypertrophy of skin of soles
Depigmentation/hyperpigmentation of skin
Connective tissue nevi
Central heterochromia
Neoplasm of the thymus
Abnormal subcutaneous fat tissue distribution
Retinal nonattachment
Bronchogenic cyst
Retinal hamartoma
Thymus hyperplasia
Bipolar affective disorder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Hepatomegaly and Dysphagia, related diseases and genetic alterations
Hepatomegaly and High, narrow palate, related diseases and genetic alterations
Pain and Generalized myoclonic seizures, related diseases and genetic alterations
Nystagmus and Congestive heart failure, related diseases and genetic alterations
Scoliosis and Hip dislocation, related diseases and genetic alterations
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