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.


Top matches:

High match ALAGILLE SYNDROME 1; ALGS1


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

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

High match FANCONI ANEMIA


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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Other less relevant matches:

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


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

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


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

Medium match PORPHYRIA VARIEGATA


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

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


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

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


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

Medium match COSTELLO SYNDROME


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

Low match 15Q13.3 MICRODELETION 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 Hypogonadism, related diseases and genetic alterations Hepatomegaly and Polydactyly, related diseases and genetic alterations Pain and Generalized myoclonic seizures, related diseases and genetic alterations Peripheral neuropathy and Elevated serum creatine phosphokinase, related diseases and genetic alterations Nystagmus and Syndactyly, related diseases and genetic alterations Scoliosis and Pectus carinatum, related diseases and genetic alterations

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