Feeding difficulties, and Basal cell carcinoma

Diseases related with Feeding difficulties and Basal cell carcinoma

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

Top matches:

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

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

Other less relevant matches:

Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). Genetic Heterogeneity of Multinodular GoiterOther MNG loci map to chromosome Xp22 (MNG2 ) and chromosome 3q26 (MNG3 ).

FAMILIAL MULTINODULAR GOITER Is also known as multinodular goiter, adolescent|fmng|euthyroid goiter|simple goiter|goiter, nontoxic, with intrathyroidal calcification|familial mng

Related symptoms:

  • Neoplasm
  • Pain
  • Abdominal pain
  • Carcinoma
  • Amenorrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MULTINODULAR GOITER

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

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 LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Basal cell carcinoma

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Basal cell carcinoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Carcinoma Sparse hair Cutaneous photosensitivity Hypogonadism Hyperkeratosis Frontal bossing Abdominal pain Squamous cell carcinoma Growth delay Poikiloderma Concave nasal ridge Osteosarcoma Polydactyly Global developmental delay Malabsorption Medulloblastoma Flexion contracture Nail dystrophy Microcornea Short stature Microcephaly Telangiectasia Nystagmus Pain Hypopigmentation of the skin Alopecia Visual impairment Diarrhea

Rare Symptoms - Less than 30% cases

Recurrent infections Anemia Skeletal dysplasia Kyphoscoliosis Mandibular prognathia Glaucoma Eczema Weight loss Micrognathia Cryptorchidism Cleft palate Colitis Hearing impairment Cardiac fibroma Odontogenic keratocysts of the jaw Plantar pits Ovarian fibroma Syndactyly Palmar pits Small for gestational age Fatigue Freckling Hypotrichosis Hypertelorism Brachycephaly Fragile nails Coloboma Iris coloboma Ovarian neoplasm Retrognathia Ulcerative colitis Nausea and vomiting Vomiting Agenesis of permanent teeth Neutropenia Palmoplantar keratoderma Brittle hair Neoplasm of the skin Short thumb Microdontia Dysarthria Abnormality of the dentition Rhabdomyosarcoma Abnormality of the skeletal system Inflammation of the large intestine Seizures Nevus Ventriculomegaly Downslanted palpebral fissures Macrocephaly Epicanthus Muscular hypotonia Osteopenia Melanocytic nevus Short nose Acantholysis Erythema Skin rash Alopecia of scalp Severe vision loss Photophobia Erythroderma Melanoma Hydrocephalus Calcification of falx cerebri Abnormality of the ribs Osteoporosis Gastrointestinal hemorrhage Pectus excavatum Oral cleft Delayed eruption of teeth Epistaxis Abnormality of dental enamel Decreased antibody level in blood Abnormality of the hair Asthma Small nail Ichthyosis Dry skin Protruding ear Pulmonary fibrosis Nail dysplasia Abnormality of the face Fine hair Intestinal obstruction Immunodeficiency Dyspnea Decreased fertility Albinism Spastic diplegia Acanthosis nigricans Renal insufficiency Babinski sign Abnormality of the thorax Dysphonia Macular degeneration Increased bone mineral density Chronic diarrhea Blindness Pneumonia Freckles in sun-exposed areas Areflexia Abnormal bleeding Epidermal acanthosis Prolonged bleeding time Abnormal lung morphology Urinary tract neoplasm Hypopigmentation of hair Thickened skin Iris hypopigmentation Long eyelashes Gingival bleeding Cardiac diverticulum Abnormality of visual evoked potentials Ocular albinism Hematochezia Delayed speech and language development Anorexia Abnormality of the optic nerve Myopia Restrictive ventilatory defect Astigmatism Cardiomyopathy Amblyopia Abnormal thrombocyte morphology Impaired platelet aggregation Squamous cell carcinoma of the skin Partial albinism Menometrorrhagia Cognitive impairment Bruising susceptibility Hypotension Congenital ichthyosiform erythroderma Thoracic scoliosis Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Narrow nose Sprengel anomaly Abnormality of the sternum Brain neoplasm Vertebral fusion Long fingers Milia Disproportionate tall stature Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Broad face Astrocytoma Hypogonadotrophic hypogonadism Severe hydrocephalus Irregular ossification of hand bones Bridged sella turcica Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Orbital cyst Short distal phalanx of the thumb Multiple impacted teeth Ectopic calcification Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Hemivertebrae Muscle stiffness Keratoconjunctivitis sicca Abnormality of hair texture Motor delay Spasticity Ataxia Scoliosis Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Titubation Wide nasal bridge Trichorrhexis nodosa Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance IgG deficiency Hyperactive deep tendon reflexes Brachydactyly Visual loss Short ribs Cleft upper lip Spina bifida Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Cerebral calcification Abnormality of creatine metabolism Postaxial polydactyly Arachnodactyly Proptosis Carious teeth Papule Facial palsy Cleft lip Telecanthus Proteinuria EEG abnormality Coarse facial features Neoplasm of the rectum Hypoplasia of the radius Neoplasm of the skeletal system Absent thumb Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Skin vesicle Premature graying of hair Patellar aplasia Pyloric stenosis Sarcoma Dermal atrophy Congenital hip dislocation Short palpebral fissure Growth hormone deficiency Hypodontia Rectovaginal fistula Skin erosion Small hand Goiter Colorectal polyposis Papillary thyroid carcinoma Multinodular goiter Thyroid carcinoma Episodic abdominal pain Renal cell carcinoma Hyperthyroidism Amenorrhea Aplasia/Hypoplasia of the patella Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Short foot Short palm Medulloepithelioma Sparse scalp hair Long philtrum Kyphosis Short neck Low-set ears Acrokeratosis Lamellar cataract Striae distensae Overgrowth Narrow mouth Abnormal blistering of the skin Abnormality of skin pigmentation Leukemia Postnatal growth retardation Hyperhidrosis Prominent forehead Edema Hyperactivity Umbilical hernia Flat face Metopic synostosis Anal atresia Hip dislocation Corneal opacity Talipes equinovarus Hypertension Sensorineural hearing impairment Thickened ears Abnormality of the vertebral column Retinopathy Large for gestational age Nephroblastoma Trigonocephaly Arnold-Chiari malformation Accelerated skeletal maturation Tall stature Joint hyperflexibility Euthyroid goiter Pleuropulmonary blastoma Benign neoplasm of the central nervous system Irritability Migraine Dyskinesia Paresthesia Neurological speech impairment Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Hallucinations Anxiety Constipation Depressivity Behavioral abnormality Hypertonia Gait disturbance Hypoplasia of teeth Memory impairment Increased intracranial pressure Prematurely aged appearance Prostate cancer Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Leiomyosarcoma Amaurosis fugax Dysgraphia Intestinal polyposis Breast carcinoma Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Neuroblastoma Colon cancer Visual field defect Hemiplegia/hemiparesis Absent eyelashes Absent eyebrow Alveolar rhabdomyosarcoma Blepharophimosis Abnormality of the skin Intestinal malrotation Hirsutism Polymicrogyria Facial asymmetry Toe syndactyly Finger syndactyly Craniosynostosis Horizontal nystagmus Agenesis of corpus callosum Ptosis Sertoli cell neoplasm Euthyroid multinodular goiter Pilomatrixoma Cerebellar medulloblastoma Testicular seminoma Broad thumb Generalized hirsutism Myelodysplasia Arnold-Chiari type I malformation Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Anterior plagiocephaly Optic nerve coloboma Chronic constipation Foot polydactyly Narrow palpebral fissure Anal stenosis Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Hypopigmented skin patches Hamartomatous stomach polyps


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