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:

High match 1P36 DELETION SYNDROME


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

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

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Other less relevant matches:

Low match PILAROWSKI-BJORNSSON SYNDROME; PILBOS


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

Low match NOONAN SYNDROME 9; NS9


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

Low match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


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

Low match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


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

Low match CCDC115-CDG


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

Low match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


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

Low match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

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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