Hypertelorism, and Ectodermal dysplasia

Diseases related with Hypertelorism and Ectodermal dysplasia

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

Top matches:

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

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL 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

Other less relevant matches:

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

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

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

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Top 5 symptoms//phenotypes associated to Hypertelorism and Ectodermal dysplasia

Symptoms // Phenotype % cases
Depressed nasal bridge Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Syndactyly Sparse eyebrow Sparse hair Global developmental delay Sparse eyelashes Epicanthus Telecanthus Abnormality of the dentition Hearing impairment Anteverted nares Hypoplasia of the maxilla Intellectual disability Microdontia Abnormality of the pinna Hypodontia Short stature Cutaneous syndactyly Abnormality of the genital system Oral cleft Cleft upper lip Craniosynostosis Cleft lip Conductive hearing impairment Posteriorly rotated ears Sparse and thin eyebrow Growth delay Ablepharon Microtia Cutis laxa Hypoplastic nipples Ectropion Downslanted palpebral fissures Oligodontia Omphalocele Microcephaly High palate Abnormal facial shape Malar flattening High forehead

Rare Symptoms - Less than 30% cases

Bilateral cleft lip Thin skin Short nose Abnormality of female external genitalia Absent nipple Hernia Toe syndactyly Atresia of the external auditory canal Redundant skin Hypohidrosis Hypoplasia of the zygomatic bone Frontal bossing Abnormality of the skeletal system Midface retrusion Inguinal hernia Hypertrichosis Polydactyly Myopia Agenesis of corpus callosum Clinodactyly Flat face Conical tooth Dental malocclusion Cryptorchidism Preaxial polydactyly Micropenis Blepharophimosis Choanal atresia Split hand Absent septum pellucidum High anterior hairline Ectrodactyly Central diabetes insipidus Semilobar holoprosencephaly Anal atresia Carious teeth Finger syndactyly Sparse scalp hair Upslanted palpebral fissure Underdeveloped nasal alae Visual impairment Renal agenesis Short neck Cryptophthalmos Corneal opacity Hypospadias Nasolacrimal duct obstruction Broad nasal tip Short philtrum Wide mouth Wide nose Dry skin Thin vermilion border Reduced number of teeth Microphthalmia Talipes equinovarus Proteinuria Abnormal hair pattern Low anterior hairline Depressivity Long philtrum Triangular face Cataract Sensorineural hearing impairment Strabismus Nystagmus Fused teeth Metopic synostosis Hyperhidrosis Platyspondyly Brachycephaly Otitis media Recurrent otitis media Osteoarthritis Thick vermilion border Thick lower lip vermilion High myopia Cerebral calcification Esotropia Glaucoma Bifid uvula Retinal detachment Genu valgum Congenital cataract Hypotrichosis Arthralgia Proptosis Horizontal ribs Biliary cirrhosis Portal fibrosis Everted lower lip vermilion Cholestasis Narrow forehead Postaxial hand polydactyly Limb undergrowth Full cheeks Renal cyst Stage 5 chronic kidney disease Rhizomelia Smooth philtrum Narrow chest Dolichocephaly Joint laxity Elevated hepatic transaminase Retrognathia Left ventricular hypertrophy Hydrops fetalis Bile duct proliferation Nephronophthisis Cloverleaf skull Broad philtrum Cholangitis Polysplenia Cutaneous finger syndactyly Cystic hygroma Mesomelia Hepatic fibrosis Patent foramen ovale Chronic kidney disease Widely spaced teeth Plagiocephaly Narrow palpebral fissure Hyperbilirubinemia Short ribs Amblyopia Vitreoretinopathy Coxa valga Xerostomia Anodontia Fair hair Blue irides Depressed nasal tip Split foot Blepharitis Hypopituitarism Sparse axillary hair Hydroureter Epiphora Keratitis Hand polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Conjunctivitis Generalized hypopigmentation Heat intolerance Renal dysplasia Nail pits Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Ureterocele Abnormality of the nasopharynx Dysuria Duplicated collecting system Selective tooth agenesis Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Hypogonadotrophic hypogonadism Oligohydramnios Ectopia lentis Anhidrotic ectodermal dysplasia Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Concave nasal ridge Irregular proximal tibial epiphyses Hypoplastic ilia Thick upper lip vermilion Radial bowing Acidosis Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Macrodontia of permanent maxillary central incisor Irregular distal femoral epiphysis Nail dysplasia Hyperkeratosis Growth hormone deficiency Vesicoureteral reflux Pulmonary hypoplasia Abnormality of the foot Small for gestational age Hydronephrosis Photophobia Recurrent respiratory infections Wide tufts of distal phalanges Alopecia Recurrent infections Immunodeficiency Fever Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Polyhydramnios Splenomegaly Agenesis of permanent teeth Ventricular septal defect Abnormal eyelid morphology Vertebral fusion Overfolded helix Abnormality of vision Cognitive impairment Opacification of the corneal stroma Small nail Bilateral cleft lip and palate Prominent forehead Abnormality of the kidney Hematuria Dandy-Walker malformation Cerebellar vermis hypoplasia Abnormality of the eye Myelomeningocele Upper eyelid coloboma Hypothyroidism Multiple rows of eyelashes Hypogonadism Respiratory insufficiency Intrauterine growth retardation Ptosis Vaginal atresia Broad columella Euryblepharon Abnormal hair quantity Dermoid cyst Ectropion of lower eyelids Thyroid agenesis Meningoencephalocele Epidermoid cyst Unilateral cleft lip Distichiasis Trigonocephaly Nephritis Neonatal hypotonia Hyperextensible skin Long nose Aplasia/Hypoplasia of the eyebrow Cupped ear Mandibular prognathia Rigidity Dermal atrophy Generalized hirsutism Shawl scrotum Abnormality of the face Depressed nasal ridge Bulbous nose Hirsutism Abnormality of the skin High, narrow palate Aplasia/Hypoplasia of the skin Inverted nipples Hypoplastic toenails Frontal hirsutism Scaphocephaly Tubulointerstitial nephritis Posterior fossa cyst Blindness Neoplasm Abnormality of male external genitalia Mild hearing impairment Taurodontia Failure to thrive Generalized hypertrichosis Broad alveolar ridges Breast aplasia Sparse or absent eyelashes Gingival fibromatosis Skin tags Bifid nasal tip Low-set, posteriorly rotated ears Rod-cone dystrophy Coloboma Breast hypoplasia Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Labial hypoplasia Corneal erosion Abnormality of finger Shallow orbits Overbite Abnormality of the mouth Absent eyelashes Absent eyebrow Sacral dimple Abnormality of the outer ear Short chin Excessive wrinkled skin Abnormal nasal morphology Interphalangeal joint contracture of finger Narrow mouth Thin eyebrow Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Renal insufficiency Delayed eruption of teeth Thin upper lip vermilion Short upper lip Brachydactyly Hepatomegaly Hypertension Long uvula Ventral hernia Absent hair Microtia, third degree Fine hair Hypoplasia of penis Protruding ear Hypoplasia of the brainstem Aplasia/Hypoplasia of the radius Anal stenosis Eyelid coloboma Abnormality of digit Non-midline cleft lip Diabetes insipidus Poor head control Gonadotropin deficiency Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Encephalocele Intellectual disability, profound Hypotelorism Severe global developmental delay Megalocornea Anteriorly placed anus Ambiguous genitalia Primary amenorrhea Short metacarpal Abnormality of skin pigmentation Camptodactyly of finger Camptodactyly Umbilical hernia Amenorrhea Abnormality of the hair Long hallux Delayed speech and language development Flexion contracture Lobar holoprosencephaly Hypoplasia of the frontal bone Duplication of thumb phalanx Hypernatremia Anophthalmia Slow-growing scalp hair


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