Brachydactyly, and Squamous cell carcinoma

Diseases related with Brachydactyly and Squamous cell carcinoma

In the following list you will find some of the most common rare diseases related to Brachydactyly and Squamous cell carcinoma that can help you solving undiagnosed cases.


Top matches:

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

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Other less relevant matches:

Low 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

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC


Cancer of the head and neck that begins in squamous cells (thin, flat cells that form the surface of the skin, eyes, various internal organs, and the lining of hollow organs and ducts of some glands). Squamous cell carcinoma of the head and neck includes cancers of the nasal cavity, sinuses, lips, mouth, salivary glands, throat, and larynx (voice box). Most head and neck cancers are squamous cell carcinomas.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma


SOURCES: OMIM MENDELIAN

More info about SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC

Low match DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS


Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.

DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS Is also known as porokeratosis, disseminated superficial actinic, 2|dsap2

Related symptoms:

  • Carcinoma
  • Pruritus
  • Cutaneous photosensitivity
  • Squamous cell carcinoma
  • Porokeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS

Low match CERVICAL CANCER


The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Squamous cell carcinoma
  • Papilloma
  • Abnormality of the cervical spine


SOURCES: OMIM MENDELIAN

More info about CERVICAL CANCER

Low match EPIDERMODYSPLASIA VERRUCIFORMIS


Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.

EPIDERMODYSPLASIA VERRUCIFORMIS Is also known as lutz-lewandowsky epidermodysplasia verruciformis|lewandowsky-lutz syndrome

Related symptoms:

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Papule
  • Neoplasm of the skin
  • Hypopigmented skin patches


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMODYSPLASIA VERRUCIFORMIS

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Squamous cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cutaneous photosensitivity Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Squamous cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Cataract Short thumb Intellectual disability Anemia Growth delay Microcephaly Hypogonadism Neoplasm of the skin Skeletal dysplasia Micrognathia Abnormal facial shape Cryptorchidism Absent radius Absent thumb Basal cell carcinoma Abnormality of the skeletal system Short palpebral fissure Hypopigmentation of the skin

Rare Symptoms - Less than 30% cases


Hyperkeratosis Hip dislocation Abnormality of cardiovascular system morphology Erythema Skin rash Hypopigmented skin patches Small for gestational age Alopecia Microphthalmia Cleft palate Corneal opacity Ventriculomegaly Anal atresia Short foot Telangiectasia Diabetes mellitus Sarcoma Aplasia/Hypoplasia of the thumb Pruritus Duodenal stenosis Global developmental delay Hypertelorism Failure to thrive High palate Visual impairment Weight loss Glaucoma Strabismus Abnormality of the testis Irregular hyperpigmentation Hypoplasia of the radius Diarrhea Nail dystrophy Horseshoe kidney Bone marrow hypocellularity Cafe-au-lait spot Pancytopenia Palmoplantar keratoderma Microdontia Multiple cafe-au-lait spots Myelodysplasia Neutropenia Poikiloderma Osteosarcoma Concave nasal ridge Abnormality of the kidney Thrombocytopenia Hypermelanotic macule Diffuse palmoplantar keratoderma Porokeratosis Protruding ear Abnormality of the thumb Dry skin Patchy palmoplantar keratoderma Tapered finger Abnormal blistering of the skin Diffuse palmoplantar hyperkeratosis Epidermal acanthosis Abnormality of the hair Hypertrichosis Thickened skin Generalized hyperkeratosis Scaling skin Abnormality of the nail Generalized hirsutism Palmoplantar hyperkeratosis Bicornuate uterus Abnormality of the uterus Hypergranulosis Macule Hyperhidrosis Neoplasm of head and neck Abnormality of the preputium Decreased fertility in males Abnormality of chromosome stability Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duplicated collecting system Meckel diverticulum Low-grade fever Abnormal localization of kidney Abnormal renal morphology Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Abnormal aortic valve morphology Partial duplication of thumb phalanx Clubbing of toes Chromosomal breakage induced by crosslinking agents Pyridoxine-responsive sideroblastic anemia Abnormality of the hypothalamus-pituitary axis Hypoplastic anemia Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Acute monocytic leukemia Abnormal carotid artery morphology Abnormality of femur morphology Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Reticulocytopenia Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Papilloma Agenesis of corpus callosum Abnormality of the cervical spine Abnormality of the coagulation cascade Generalized-onset seizure Intellectual disability, profound Status epilepticus Cholestasis Bowing of the long bones Short toe Hyperbilirubinemia Aminoaciduria Lissencephaly Hyperammonemia Disproportionate short-limb short stature Optic nerve hypoplasia Relative macrocephaly Hypoplasia of the brainstem Reduced subcutaneous adipose tissue Aciduria Tarsal synostosis Polycythemia Fibular hypoplasia Synostosis of carpal bones Short tibia Organic aciduria Enterocolitis Psychomotor deterioration Infantile encephalopathy Aplasia/Hypoplasia involving the metacarpal bones Choroid plexus cyst Mitochondrial encephalopathy Cutaneous leiomyoma Aplasia of the middle phalanges of the toes Postaxial hand polydactyly Abdominal distention Cervical polyp Optic atrophy Abnormality of metabolism/homeostasis Papule Recurrent skin infections Telangiectasia of the skin Abnormality of the immune system Pustule Verrucae Seborrheic dermatitis Skin plaque Verruca plana Seizures Generalized hypotonia Muscular hypotonia Depressed nasal bridge Macrocephaly Metabolic acidosis Pallor Polymicrogyria Hepatic failure Lactic acidosis Micromelia Neurological speech impairment Joint stiffness Polyhydramnios Ventricular septal defect Acidosis Abnormality of the upper limb Encephalopathy Cerebral atrophy Respiratory insufficiency Anteverted nares Aplastic anemia Abnormality of the genital system B-cell lymphoma Annular pancreas Pyloric stenosis Premature graying of hair Agenesis of permanent teeth Skin vesicle Increased number of teeth Anteriorly placed anus Proportionate short stature Rectovaginal fistula Patellar aplasia Acantholysis Skin erosion Aplasia/Hypoplasia of the patella Iris atrophy Juvenile cataract Congenital hip dislocation Bilateral radial aplasia Zonular cataract Forearm reduction defects Scoliosis Ataxia Nystagmus Ptosis Epicanthus Hepatomegaly Hyperreflexia Fever Intrauterine growth retardation Fatigue Respiratory distress Dermal atrophy Growth hormone deficiency Atrial septal defect Sensorineural hearing impairment Blepharophimosis Bulbous nose Vitiligo Pelvic kidney Squamous cell carcinoma of the tongue Osteopenia Hypotrichosis Nausea and vomiting Brittle hair Absent eyebrow Prematurely aged appearance Absent eyelashes Hypoplasia of teeth Flexion contracture Hypodontia Feeding difficulties Hypertension Talipes equinovarus Vomiting Short nose Osteoporosis Mandibular prognathia Kyphoscoliosis Sparse hair Flat face Short palm Small hand Delayed eruption of teeth Microcornea Hydrocephalus Congestive heart failure Arteriovenous malformation Hyperinsulinemia Recurrent urinary tract infections Insulin resistance Abnormal vertebral morphology Spina bifida Hypergonadotropic hypogonadism Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Reduced bone mineral density Abnormality of vision Abnormality of the urinary system Triphalangeal thumb Choanal atresia Tracheoesophageal fistula Glucose intolerance Hypoplasia of the ulna Ectopic kidney Hydroureter Myeloid leukemia Acute myeloid leukemia Abnormality of blood and blood-forming tissues Aplasia/Hypoplasia of the radius External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Aganglionic megacolon Oligohydramnios Renal insufficiency Postnatal growth retardation Headache Hypospadias Patent ductus arteriosus Abnormal heart morphology Clinodactyly of the 5th finger Severe short stature Upslanted palpebral fissure Proptosis Hypothyroidism Umbilical hernia Pes planus Hypertrophic cardiomyopathy Abnormality of the eye Irritability Abnormality of the liver Sloping forehead Abnormal cardiac septum morphology Leukemia Finger syndactyly Dolichocephaly Toe syndactyly Abnormality of the foot Facial asymmetry Astigmatism Vertigo Abnormality of skin pigmentation Bruising susceptibility Lymphoma Renal agenesis Tetralogy of Fallot Open operculum



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