Breast carcinoma, and Ectodermal dysplasia

Diseases related with Breast carcinoma and Ectodermal dysplasia

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


Top matches:

Low match ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA


Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) and Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or NipplesAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2 ) is caused by mutation in the PTPRF gene (OMIM ) on chromosome 1p34.

ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA Is also known as athelia|amazia|amastia|isolated congenital amastia

Related symptoms:

  • Ectodermal dysplasia
  • Choanal atresia
  • Hyperthyroidism
  • Aplasia/Hypoplasia of the nipples
  • Absent nipple


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA

Low match ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A Is also known as hed|ectodermal dysplasia, hypohidrotic, autosomal dominant

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A

Low match ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A Is also known as hed|ectodermal dysplasia, hypohidrotic, autosomal dominant

Related symptoms:

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A

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Other less relevant matches:

Low match ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Short philtrum
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12

Low match BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2


Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) or Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009).For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see {113700}.

Related symptoms:

  • Cryptorchidism
  • Anteverted nares
  • Obesity
  • Hyperhidrosis
  • Smooth philtrum


SOURCES: OMIM MENDELIAN

More info about BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2

Low match ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

Low match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Low match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Top 5 symptoms//phenotypes associated to Breast carcinoma and Ectodermal dysplasia

Symptoms // Phenotype % cases
Absent nipple Very Common - Between 80% and 100% cases
Hyperhidrosis Common - Between 50% and 80% cases
Hypodontia Common - Between 50% and 80% cases
Anhidrotic ectodermal dysplasia Common - Between 50% and 80% cases
Hypohidrosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Breast carcinoma and Ectodermal dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypotrichosis

Uncommon Symptoms - Between 30% and 50% cases


Hypoplastic nipples Anodontia Thick vermilion border Hypohidrotic ectodermal dysplasia Anhidrosis Agenesis of permanent teeth Dry skin Sparse hair Microdontia Everted lower lip vermilion Sparse and thin eyebrow Delayed eruption of teeth Nail dysplasia Sparse eyelashes Thin skin

Rare Symptoms - Less than 30% cases


Absent eyebrow Periorbital wrinkles Sparse scalp hair Depressed nasal ridge Oligodontia Aplasia/Hypoplasia of the eyebrow Wide nasal bridge Cleft palate Syndactyly Dermal atrophy Split hand Abnormality of the face Anteverted nares Split foot Ectrodactyly Lacrimal duct atresia Camptodactyly Depressed nasal bridge Hyperkeratosis Abnormal number of teeth Heat intolerance Conical tooth Sparse eyebrow Nail dystrophy Fine hair Abnormality of the forehead Hallux valgus Gonadal dysgenesis Intellectual disability Global developmental delay Taurodontia Hearing impairment Growth delay Hypergonadotropic hypogonadism Failure to thrive Micrognathia Abnormal facial shape Hypertelorism Primary amenorrhea Joint contracture of the hand Conical incisor Fingernail dysplasia Ablepharon Lacrimal duct stenosis Frontal hirsutism Nail pits Mild hearing impairment Abnormality of female external genitalia Talipes equinovarus Premature loss of permanent teeth Adermatoglyphia Generalized hypertrichosis Hypogonadism Broad alveolar ridges Bifid uvula Amenorrhea Low-set ears Mandibular prognathia Short neck Hyperextensible skin Hypertrichosis Skin tags Abnormality of the genital system Low anterior hairline Generalized hirsutism Cutis laxa Atresia of the external auditory canal Nasolacrimal duct obstruction Redundant skin Ectropion Cupped ear Long nose Aplasia/Hypoplasia of the skin Shawl scrotum Abnormality of the skin Underdeveloped nasal alae Hypospadias Wide mouth Inverted nipples Rigidity Conductive hearing impairment Telecanthus Breast aplasia Abnormality of the pinna Microtia Dental malocclusion Sparse or absent eyelashes Thin vermilion border Bulbous nose Hirsutism High, narrow palate Gingival fibromatosis Triangular face Toenail dysplasia Toe syndactyly Breast hypoplasia Small earlobe Smooth philtrum Highly arched eyebrow Single transverse palmar crease Broad nasal tip Bilateral single transverse palmar creases Widely spaced teeth Urethral stenosis Cryptorchidism Fever Recurrent respiratory infections Respiratory tract infection Keratoconjunctivitis sicca Rhinitis Xerostomia Obesity Hypoplastic sweat glands Hypertension Slow-growing hair Hyperthyroidism Aplasia/Hypoplasia of the nipples Bilateral choanal atresia Aplasia/Hypoplasia of the breasts Hypoplastic areola Absent hair Delayed eruption of primary teeth Acne inversa Short eyelashes Short philtrum Natal tooth Concave nasal ridge Subungual hyperkeratosis Orthokeratosis Sparse lateral eyebrow Frontal bossing Sparse axillary hair Finger clinodactyly Wide intermamillary distance Eczema Cutaneous photosensitivity Inflammatory abnormality of the skin Skin ulcer Abnormality of the nail Conjunctivitis Anal atresia Melanocytic nevus Abnormality of dental morphology Freckling Alopecia of scalp Fair hair Generalized hypopigmentation Oral cleft Choanal atresia Short distal phalanx of finger Everted upper lip vermilion Hoarse voice Type I diabetes mellitus Palmoplantar hyperkeratosis Sparse body hair Soft skin Anterior hypopituitarism Periorbital hyperpigmentation Finger syndactyly Brachydactyly Abnormality of the dentition Midface retrusion Clinodactyly Clinodactyly of the 5th finger Alopecia Prominent nasal bridge Abnormality of male external genitalia



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