Breast carcinoma, and Hypodontia

Diseases related with Breast carcinoma and Hypodontia

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match ANE SYNDROME


ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

ANE SYNDROME Is also known as ane syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ANE SYNDROME

Medium 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

Medium 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

Medium 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

Medium match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Medium match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Top 5 symptoms//phenotypes associated to Breast carcinoma and Hypodontia

Symptoms // Phenotype % cases
Ectodermal dysplasia Very Common - Between 80% and 100% cases
Hypohidrosis Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Hypotrichosis Common - Between 50% and 80% cases
Anodontia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Sparse hair

Uncommon Symptoms - Between 30% and 50% cases


Absent nipple

Common Symptoms - More than 50% cases


Anhidrosis

Uncommon Symptoms - Between 30% and 50% cases


Nail dysplasia Agenesis of permanent teeth Thick vermilion border Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Sparse eyelashes Microdontia Hypoplastic nipples Hypogonadism Sparse and thin eyebrow Syndactyly Dry skin Wide intermamillary distance Everted lower lip vermilion Abnormality of dental morphology Carious teeth Intellectual disability Sparse lateral eyebrow Sparse scalp hair Recurrent respiratory infections Oral cleft Palmoplantar hyperkeratosis Cleft palate Alopecia Nail dystrophy Finger syndactyly Wide nasal bridge Thin skin Midface retrusion Toe syndactyly

Rare Symptoms - Less than 30% cases


Synophrys Split hand Neurological speech impairment Protruding ear Split foot Hyperlordosis Melanocytic nevus Cleft lip EEG abnormality Lacrimal duct atresia Macrotia Camptodactyly Malar flattening Downslanted palpebral fissures Micrognathia Ectrodactyly Oligodontia Abnormality of the dentition Aplasia/Hypoplasia of the eyebrow Seizures Highly arched eyebrow Cleft upper lip Abnormal number of teeth Progressive hypotrichosis Abnormality of the philtrum Hyperkeratosis Cutaneous syndactyly of toes Pili torti Heat intolerance Dystrophic fingernails Dystrophic toenail Bilateral cleft lip and palate Fine hair Delayed eruption of teeth Conical tooth Abnormality of the ear Depressed nasal bridge Bilateral single transverse palmar creases Abnormality of dental enamel Abnormality of the forehead Abnormality of the ureter Cutaneous finger syndactyly Periorbital wrinkles Absent eyebrow Scrotal hypoplasia Alopecia of scalp Fingernail dysplasia Fair hair Pterygium Scaling skin Generalized hypopigmentation Toenail dysplasia Nasolacrimal duct obstruction Breast hypoplasia Lacrimal duct stenosis Sparse axillary hair Premature loss of permanent teeth Nail pits Hypergonadotropic hypogonadism Abnormal dermatoglyphics Abnormality of the kidney Brittle hair Bilateral cleft lip Gonadal dysgenesis Hallux valgus Joint contracture of the hand Global developmental delay Primary amenorrhea Amenorrhea Bifid uvula Hypoplasia of the zygomatic bone Adermatoglyphia Triangular face Conical incisor Freckling Everted upper lip vermilion Dermal atrophy Keratoconjunctivitis sicca Gynecomastia Hyperpigmentation of the skin Delayed puberty Kyphoscoliosis Hypothyroidism Intellectual disability, severe Skeletal muscle atrophy Flexion contracture Microcephaly Short stature Xerostomia Rhinitis Respiratory tract infection Reduced subcutaneous adipose tissue Fever Hypoplastic sweat glands Acne inversa Orthokeratosis Subungual hyperkeratosis Concave nasal ridge Natal tooth Short philtrum Short eyelashes Delayed eruption of primary teeth Slow-growing hair Sparse eyebrow Absent hair Adrenal insufficiency Motor deterioration Conjunctivitis Periorbital hyperpigmentation Finger clinodactyly Abnormality of the nail Skin ulcer Abnormality of the face Inflammatory abnormality of the skin Cutaneous photosensitivity Eczema Anal atresia Prominent nasal bridge Clinodactyly of the 5th finger Clinodactyly Brachydactyly Anterior hypopituitarism Upper motor neuron dysfunction Soft skin Sparse body hair Type I diabetes mellitus Hoarse voice Depressed nasal ridge Short distal phalanx of finger Frontal bossing Hypertension Compensated hypothyroidism Ulnar deviation of the hand or of fingers of the hand Central adrenal insufficiency Ulnar deviation of the hand Adrenocorticotropic hormone deficiency Anteverted ears



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