Downslanted palpebral fissures, and Abnormal blistering of the skin
Diseases related with Downslanted palpebral fissures and Abnormal blistering of the skin
In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Abnormal blistering of the skin that can help you solving undiagnosed cases.
Top matches:
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about 1P36 DELETION SYNDROME
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
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
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Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).
PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS
Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).
Related symptoms:
- Global developmental delay
- Short stature
- Hypertelorism
- Abnormal facial shape
- Cryptorchidism
SOURCES:
OMIM
MENDELIAN
More info about NOONAN SYNDROME 9; NS9
Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).
FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of
Related symptoms:
- Hypertelorism
- Abnormal facial shape
- Downslanted palpebral fissures
- Respiratory distress
- Recurrent infections
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION
Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).
SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome
Related symptoms:
- Scoliosis
- Neoplasm
- Ptosis
- Depressed nasal bridge
- Wide nasal bridge
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME
Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).
CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ptosis
- Hepatomegaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about CCDC115-CDG
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Related symptoms:
- Hypertelorism
- Cleft palate
- Low-set ears
- Depressed nasal bridge
- Downslanted palpebral fissures
SOURCES:
OMIM
MENDELIAN
More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF
Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Abnormal blistering of the skin
Symptoms // Phenotype |
% cases |
Hypertelorism |
Common - Between 50% and 80% cases
|
Global developmental delay |
Uncommon - Between 30% and 50% cases
|
Abnormal facial shape |
Uncommon - Between 30% and 50% cases
|
Depressed nasal bridge |
Uncommon - Between 30% and 50% cases
|
Pointed chin |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Downslanted palpebral fissures and Abnormal blistering of the skin. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Seizures
Ptosis
Wide nasal bridge
Low-set ears
Intellectual disability
Autism
Generalized hypotonia
Rare Symptoms - Less than 30% cases
EEG abnormality
Absent speech
Hypercholesterolemia
Hypoplasia of the corpus callosum
Thick vermilion border
Hypodontia
Ectodermal dysplasia
Hypertrichosis
Frontal bossing
Thin upper lip vermilion
Prominent forehead
Brachycephaly
Long face
Abnormal cardiac septum morphology
Foot polydactyly
Cryptorchidism
Growth delay
Synophrys
Scoliosis
Cleft palate
Coarctation of aorta
Hip dysplasia
High palate
Short stature
Bilobate gallbladder
Macrocephaly
Abnormality of the cerebral ventricles
Widened subarachnoid space
Congenital talipes calcaneovalgus
Aplasia/Hypoplasia involving bones of the feet
Abnormality of the femoral neck
Thin eyebrow
Hyperplastic labia majora
Abnormal parietal bone morphology
Agenesis of the anterior commissure
Agenesis of permanent teeth
Abnormality of the renal pelvis
Solitary renal cyst
Low insertion of columella
Hyperhidrosis
Hypotrichosis
Reduced number of teeth
Oligodontia
Sparse eyelashes
Hypohidrosis
Conical tooth
Low anterior hairline
Hypotrichosis of the scalp
Wide nose
Oval face
Ebstein anomaly of the tricuspid valve
Abnormal external genitalia
Bifid ribs
Thickened helices
Abnormal corpus callosum morphology
Periventricular leukomalacia
Cavum septum pellucidum
Abnormality of chromosome stability
Biliary tract abnormality
Abnormal left ventricle morphology
Abnormal renal physiology
Colpocephaly
Rib fusion
Lambdoidal craniosynostosis
Delayed closure of the anterior fontanelle
Abnormality of the spleen
Left ventricular noncompaction
Redundant neck skin
Volvulus
Delayed CNS myelination
Dilation of lateral ventricles
Abnormality of the testis
Impaired social interactions
Abnormality of female external genitalia
Hypoplastic female external genitalia
Horizontal eyebrow
Abnormality of the hairline
Oppositional defiant disorder
Asymmetry of the ears
Noncompaction cardiomyopathy
Cranial nerve VI palsy
Abnormal social behavior
Talipes valgus
Developmental regression
Hypoplastic labia minora
Abnormality of the mandible
Muscle flaccidity
Annular pancreas
Aortic arch aneurysm
Abnormality of brain morphology
Expressive language delay
Abnormality of the optic disc
Abnormality of the anus
Gastric ulcer
Immunodeficiency
Sparse eyebrow
Postnatal growth retardation
Elevated serum creatine phosphokinase
Cholestatic liver disease
Prolonged neonatal jaundice
Hepatic failure
Cirrhosis
Elevated hepatic transaminase
Jaundice
Hepatosplenomegaly
Splenomegaly
Abnormal glycosylation
Skeletal muscle atrophy
Hepatomegaly
Auditory hallucinations
Xanthelasma
Long foot
Thoracolumbar scoliosis
Fragile skin
Increased LDL cholesterol concentration
Elevated alkaline phosphatase of bone origin
Prominent supraorbital ridges
Patellar hypoplasia
Cafe-au-lait spot
Dental crowding
Dolichocephaly
Attention deficit hyperactivity disorder
Intellectual disability, mild
Motor delay
Median cleft palate
Bilateral talipes equinovarus
Decreased serum ceruloplasmin
Preaxial polydactyly
Pterygium
Cardiomegaly
Talipes
Pes planus
Polydactyly
Talipes equinovarus
Copper accumulation in liver
Narrow nasal bridge
Hyperextensible skin
Apraxia
Abnormality of the neck
Astigmatism
Erythema
Recurrent infections
Respiratory distress
Hyperkeratosis pilaris
Curly hair
Mild short stature
Sparse and thin eyebrow
Conjunctivitis
Webbed neck
Pulmonic stenosis
Hyperkeratosis
Short neck
Broad eyebrow
Dermal translucency
Periorbital fullness
Speech apraxia
Sinusitis
Epiphora
Hallucinations
Depressivity
Tall stature
Thin skin
Progressive neurologic deterioration
Cerebral calcification
Overgrowth
Anxiety
Proptosis
Neoplasm
Cellulitis
Dacryocystocele
Dacryocystitis
Lacrimal duct atresia
Rhinorrhea
Nasolacrimal duct obstruction
Periorbital edema
Nasal obstruction
Chronic sinusitis
11 pairs of ribs
Spinal canal stenosis
Lower limb asymmetry
Narrow mouth
Hydronephrosis
Neonatal hypotonia
Conductive hearing impairment
Deeply set eye
Gastroesophageal reflux
Mandibular prognathia
Hypothyroidism
Micropenis
Low-set, posteriorly rotated ears
Cerebral cortical atrophy
Hypogonadism
Upslanted palpebral fissure
Posteriorly rotated ears
Pes cavus
Agenesis of corpus callosum
Constipation
Aggressive behavior
Abnormality of the kidney
Delayed skeletal maturation
Microtia
Cleft upper lip
Poor speech
Hypermetropia
Abnormality of the cerebral white matter
Dilated cardiomyopathy
Small for gestational age
Neurological speech impairment
Camptodactyly of finger
Camptodactyly
Coloboma
Blepharophimosis
Abnormality of the liver
Joint stiffness
Abnormality of the pinna
Feeding difficulties in infancy
Abnormality of the eye
Clinodactyly of the 5th finger
Patent ductus arteriosus
Polymicrogyria
Muscular hypotonia
Brachydactyly
Epicanthus
Visual impairment
Delayed speech and language development
Feeding difficulties
Cognitive impairment
Cataract
Muscle weakness
Optic atrophy
Sensorineural hearing impairment
Strabismus
Micrognathia
Failure to thrive
Nystagmus
Microcephaly
Hearing impairment
Myopia
Gait disturbance
Clinodactyly
Kyphosis
Hypospadias
Obesity
Abnormality of cardiovascular system morphology
Midface retrusion
Cerebral atrophy
Malar flattening
Long philtrum
Behavioral abnormality
Dysphagia
Myopathy
Atrial septal defect
Cardiomyopathy
Hydrocephalus
Anteverted nares
Ventriculomegaly
Ventricular septal defect
Abnormality of the skeletal system
Oral cleft
Hepatic steatosis
Optic nerve coloboma
Dysphasia
Abnormality of the immune system
Abnormal heart valve morphology
Infantile spasms
High hypermetropia
Macule
Polyphagia
Hypermelanotic macule
Delayed cranial suture closure
Telangiectasia of the skin
Metatarsus adductus
Hemiplegia/hemiparesis
Congenital sensorineural hearing impairment
Clitoral hypertrophy
Self-injurious behavior
Hand polydactyly
Failure to thrive in infancy
Absent septum pellucidum
Slender long bone
Pyloric stenosis
Self-mutilation
Abnormality of the gastrointestinal tract
Missing ribs
Short 5th finger
Ocular albinism
Coronal craniosynostosis
Abnormal eyebrow morphology
Hiatus hernia
Arnold-Chiari type I malformation
Neuroblastoma
Overweight
Epileptic spasms
Abnormal lung lobation
Aortic root aneurysm
Submucous cleft hard palate
Congenital hypothyroidism
Anteriorly placed anus
Patent foramen ovale
Abnormality of vision
Short foot
Tetralogy of Fallot
Tetraparesis
Ventricular hypertrophy
Interphalangeal joint contracture of finger
Hypsarrhythmia
Abnormality of the ribs
Optic disc pallor
Hypoplasia of penis
Mitral regurgitation
Epileptic encephalopathy
Abnormality of the skin
Intestinal malrotation
Delayed myelination
Brain atrophy
Bifid uvula
Renal cyst
Depressed nasal ridge
Pachygyria
Delayed gross motor development
Abnormal intestine morphology
Infantile muscular hypotonia
Scrotal hypoplasia
Sacral dimple
Aplasia/Hypoplasia of the corpus callosum
Bicuspid aortic valve
Leukoencephalopathy
Cranial nerve paralysis
Spastic tetraparesis
Heterotopia
Narrow palpebral fissure
Generalized hirsutism
Wide anterior fontanel
Short phalanx of finger
Stereotypy
Telangiectasia
Large fontanelles
Decreased body weight
Narrow palate
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