Abnormal facial shape, and Ectodermal dysplasia

Diseases related with Abnormal facial shape and Ectodermal dysplasia

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


Top matches:

Low match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14


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-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Hyperhidrosis
  • Hypotrichosis
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Low 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

Low match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

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

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Ectodermal dysplasia

Symptoms // Phenotype % cases
Hypodontia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the eye Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Small nail Aplasia/Hypoplasia of the eyebrow Hearing impairment Global developmental delay Oligodontia Micrognathia Abnormality of the dentition Carious teeth Downslanted palpebral fissures Reduced number of teeth Cleft palate Hypertelorism Conical tooth Hyperhidrosis Wide nasal bridge Hypertrichosis

Rare Symptoms - Less than 30% cases


Sparse eyelashes Sparse hair Finger syndactyly Low anterior hairline Cleft upper lip Oral cleft Gingival overgrowth Toe syndactyly Nail dysplasia Bilateral cleft lip High forehead Midface retrusion Bilateral cleft lip and palate Sensorineural hearing impairment Cleft lip Thick vermilion border Anteverted nares EEG abnormality Syndactyly Hypotrichosis Delayed eruption of teeth Abnormality of dental enamel Taurodontia Ectropion Failure to thrive Talipes equinovarus Sparse and thin eyebrow Microdontia Dry skin Triangular face Conductive hearing impairment Hypohidrosis High-frequency hearing impairment Bilateral sensorineural hearing impairment Alopecia Palmoplantar hyperkeratosis Neoplasm Agenesis of permanent teeth Generalized hypotonia Cupped ear Hyperextensible skin Dermal atrophy Dystrophic fingernails Atresia of the external auditory canal Redundant skin Sparse eyebrow Abnormality of the ureter Aplasia/Hypoplasia of the skin Long nose Generalized hirsutism Hypoplastic nipples Shawl scrotum Inverted nipples Skin tags Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Cutis laxa Abnormality of the face Hypoplasia of the zygomatic bone Microtia Low-set ears Short neck Hypospadias Mandibular prognathia Rigidity Sparse lateral eyebrow Telecanthus Abnormality of the pinna Wide mouth Thin vermilion border Anodontia Bulbous nose Hirsutism High, narrow palate Dystrophic toenail Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Depressed nasal ridge Abnormality of the genital system Abnormality of female external genitalia Cutaneous finger syndactyly Multiple rows of eyelashes Euryblepharon Abnormality of the philtrum Abnormality of vision Hyperlordosis Overfolded helix Vertebral fusion Abnormality of the kidney Macrotia Abnormal eyelid morphology Myelomeningocele Hypogonadism Cutaneous syndactyly of toes Recurrent respiratory infections Protruding ear High anterior hairline Abnormal hair quantity Distichiasis Malar flattening Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Growth delay Cutaneous syndactyly Frontal hirsutism Abnormal dermatoglyphics Pili torti Ablepharon Abnormality of male external genitalia Abnormality of the ear Blindness Abnormality of dental morphology Clinodactyly Brittle hair Scrotal hypoplasia Agenesis of corpus callosum Posteriorly rotated ears Opacification of the corneal stroma Upslanted palpebral fissure Hypothyroidism Bilateral single transverse palmar creases Sparse scalp hair Wide intermamillary distance Highly arched eyebrow Anal atresia Synophrys Neurological speech impairment Flat face Choanal atresia Mild hearing impairment Recurrent infections Protracted diarrhea Pes planus Delayed speech and language development Visual impairment Hypoplasia of the corpus callosum Cerebellar atrophy Absent speech Constipation Gastroesophageal reflux Abnormality of eye movement Inability to walk Postnatal microcephaly Brachydactyly Deeply set eye Strabismus Dolichocephaly Joint hypermobility Short distal phalanx of finger Hypotelorism Abnormality of the hand Triphalangeal thumb Congenital sensorineural hearing impairment Anonychia Abnormality of digit Aplasia cutis congenita Severe sensorineural hearing impairment Hypoplasia of teeth Feeding difficulties Microcephaly Anhidrotic ectodermal dysplasia Ovarian neoplasm Hypotrichosis of the scalp Oval face Low insertion of columella Depressed nasal bridge Wide nose Thin eyebrow Hyperkeratosis Carcinoma Palmoplantar keratoderma Squamous cell carcinoma Basal cell carcinoma Renal cell carcinoma Poroma Onycholysis Ridged nail Premature loss of primary teeth Toenail dysplasia Plantar hyperkeratosis Thin nail Facial telangiectasia Trichodysplasia Bird-like facies Abnormality of primary teeth Narrow nail Apocrine hidrocystoma Selective tooth agenesis Absent toenail Pyelonephritis Sepsis Fever Myopathy Diarrhea Immunodeficiency Thrombocytopenia Pectus excavatum Encephalopathy Pneumonia Difficulty walking Lymphadenopathy Neutropenia Chronic diarrhea Muscular hypotonia Hypocalcemia Respiratory insufficiency due to muscle weakness Encephalitis Gowers sign Anhidrosis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Spasticity Muscle weakness Hidrotic ectodermal dysplasia Increased number of teeth Bilateral triphalangeal thumbs Cataract Long philtrum Microphthalmia Coloboma Long face Iris coloboma Microcornea Full cheeks Hypoplasia of dental enamel Progressive hearing impairment Progressive sensorineural hearing impairment Ankylosis Abnormality of the dental pulp Periodontitis Retinal coloboma Macrodontia Pulp stones High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Otitis media with effusion Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Progressive hypotrichosis



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