Depressed nasal bridge, and Ectodermal dysplasia

Diseases related with Depressed nasal bridge and Ectodermal dysplasia

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


Top matches:

High match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


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. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

High 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

High match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

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Other less relevant matches:

High match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

High 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

High match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


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. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

High match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Ectodermal dysplasia

Symptoms // Phenotype % cases
Sparse hair Common - Between 50% and 80% cases
Sparse eyelashes Common - Between 50% and 80% cases
Thick vermilion border Uncommon - Between 30% and 50% cases
Hypodontia Uncommon - Between 30% and 50% cases
Thin skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hypertelorism Anhidrotic ectodermal dysplasia Hypoplastic nipples Hypohidrotic ectodermal dysplasia Absent eyebrow Hypohidrosis Dry skin Hypotrichosis Absent nipple Syndactyly Conical tooth Microdontia Agenesis of permanent teeth Microcephaly Hypoplasia of the maxilla Absent eyelashes Delayed eruption of teeth Sparse and thin eyebrow Periorbital wrinkles Intellectual disability Micrognathia Low-set ears Prominent forehead Underdeveloped nasal alae Hyperhidrosis Anhidrosis Sparse scalp hair Wide nasal bridge Everted lower lip vermilion Anodontia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Hypospadias Frontal bossing Fever Ventricular septal defect Epicanthus Ptosis Hearing impairment Widely spaced teeth Hypertension Short distal phalanx of finger Short stature Recurrent respiratory infections Oligodontia Depressed nasal ridge Low anterior hairline Hoarse voice Type I diabetes mellitus Wide nose Aplasia/Hypoplasia of the eyebrow Sparse body hair Soft skin Heat intolerance Anterior hypopituitarism Abnormality of the dentition Cleft palate Delayed speech and language development Sparse eyebrow Short nose Rhinitis Short chin Ectrodactyly Finger syndactyly Non-midline cleft lip Fine hair Cutaneous syndactyly Everted upper lip vermilion Craniosynostosis Protruding ear Feeding difficulties Periorbital hyperpigmentation Growth delay Cleft upper lip Cleft lip Respiratory tract infection Decreased number of sweat glands Trichodysplasia Progressive alopecia Hyperconvex fingernails Small, conical teeth Submucous cleft soft palate Pili canaliculi Hyperconvex nail Velopharyngeal insufficiency Absent lacrimal punctum High forehead Ankyloblepharon Coarse hair Narrow mouth Alopecia Conductive hearing impairment Pulmonary hypoplasia Palmoplantar keratoderma Bifid uvula Small nail Recurrent otitis media Renal dysplasia Abnormality of dental enamel Abnormality of the voice Cystic renal dysplasia Supernumerary nipple Submucous cleft hard palate Narrow nose Hypoplastic labia majora Dystrophic toenail Pili torti Dystrophic fingernails Clinodactyly of the 5th finger Thick nail Dry hair Generalized hyperpigmentation Abnormality of skin pigmentation Flexion contracture Aplasia/Hypoplasia of the nipples Redundant skin Ectropion Abnormality of the mouth Shallow orbits Hypoplasia of the zygomatic bone Abnormality of finger Corneal erosion Abnormal hair pattern Labial hypoplasia High-frequency hearing impairment Breast hypoplasia Sacral dimple Excessive wrinkled skin Overbite Abnormal nasal morphology Short upper lip Abnormality of female external genitalia Cryptophthalmos Ablepharon Microtia, third degree Absent hair Ventral hernia Atresia of the external auditory canal Abnormality of the outer ear Visual impairment Microtia Myopia Talipes equinovarus Anteverted nares Malar flattening Hernia Umbilical hernia Camptodactyly Abnormality of the pinna Wide mouth Camptodactyly of finger Corneal opacity Cutis laxa Toe syndactyly Hypoplasia of the frontal bone Thin vermilion border Short metacarpal Dental malocclusion Ambiguous genitalia Hypoplasia of penis Interphalangeal joint contracture of finger Hypertrichosis Omphalocele Abnormality of the genital system Lobar holoprosencephaly Cryptorchidism Duplication of thumb phalanx Fragile nails Generalized hypotonia Scoliosis Nystagmus Motor delay Abnormal heart morphology Abnormal cardiac septum morphology Prominent nasal bridge Broad thumb Premature loss of primary teeth Absent lower eyelashes Hyperkeratosis Palmoplantar hyperkeratosis Cognitive impairment Proteinuria Abnormality of the kidney Hematuria Dandy-Walker malformation Cerebellar vermis hypoplasia Trigonocephaly Aged leonine appearance Multiple rows of eyelashes Hypoplastic toenails Pectus carinatum Reduced number of teeth Thin eyebrow Keratoconjunctivitis sicca Xerostomia Sparse lateral eyebrow Abnormality of the forehead Abnormal number of teeth Upslanted palpebral fissure Scarring Anal atresia Distichiasis Bulbous nose Single transverse palmar crease Broad nasal tip Short palpebral fissure Conjunctivitis Dermal atrophy Abnormality of the sternum Aplasia cutis congenita Periorbital fullness Nephritis Scaphocephaly Hypernatremia Poor head control Severe global developmental delay Oral cleft Hypotelorism Intellectual disability, profound Split hand Encephalocele Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the brainstem Telecanthus Diabetes insipidus Abnormality of digit Absent septum pellucidum Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Low-set, posteriorly rotated ears Neonatal hypotonia Tubulointerstitial nephritis Concave nail Posterior fossa cyst Respiratory distress Intellectual disability, severe Immunodeficiency Eczema Dysphonia Prominent supraorbital ridges Brittle hair Taurodontia Abnormal oral mucosa morphology Micropenis Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Abnormal facial shape Intrauterine growth retardation Respiratory insufficiency Microphthalmia Agenesis of corpus callosum Posteriorly rotated ears Hypogonadism Long uvula



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