Downslanted palpebral fissures, and High myopia

Diseases related with Downslanted palpebral fissures and High myopia

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and High myopia that can help you solving undiagnosed cases.

Top matches:

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Other less relevant matches:

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and High myopia

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Pes planus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Global developmental delay Cutis laxa Malar flattening Proptosis Short stature High palate Feeding difficulties Frontal bossing Macrocephaly Abnormal facial shape Short nose Scoliosis Long philtrum Intrauterine growth retardation Strabismus Failure to thrive Cryptorchidism Motor delay Arachnodactyly Joint hypermobility Cerebellar hypoplasia Generalized hypotonia Delayed speech and language development Anteverted nares Cataract Lipodystrophy Micrognathia Prominent forehead Hearing impairment Muscular hypotonia Broad nasal tip Redundant skin Midface retrusion Hernia Macrotia Wide anterior fontanel

Rare Symptoms - Less than 30% cases

Growth delay Bruising susceptibility Depressed nasal bridge Severe intrauterine growth retardation Aortic aneurysm Pachygyria Tall stature Retrognathia Prominent nasal bridge Congenital hip dislocation Cognitive impairment Dilatation Hydrocephalus Omphalocele Dandy-Walker malformation Polymicrogyria Flat face Prominent supraorbital ridges Brachydactyly Joint laxity Sparse hair Inguinal hernia Overgrowth Posteriorly rotated ears Intestinal malrotation Smooth philtrum Umbilical hernia Narrow mouth Postnatal growth retardation Coloboma Abnormality of the pinna Carious teeth Absent speech Ventriculomegaly Abnormal isoelectric focusing of serum transferrin Coarse hair Microcephaly Pectus carinatum Ectopia lentis Short neck Wide nasal bridge Mitral valve prolapse High, narrow palate Emphysema Long fingers Aortic root aneurysm Cleft palate Megalocornea Clinodactyly of the 5th finger Hypoplastic toenails Agenesis of corpus callosum Communicating hydrocephalus Congenital diaphragmatic hernia Lumbar hyperlordosis Sparse eyebrow Progressive visual loss Retinal detachment Large hands Disproportionate tall stature Retinal dystrophy Megalencephaly Long foot Iris coloboma Slender build Ventricular septal defect Metopic synostosis Pulmonary hypoplasia Broad forehead Expressive language delay Long neck Triangular face Severe expressive language delay Sensorineural hearing impairment Telecanthus Proteinuria Thick corpus callosum Increased arm span Abnormal cerebellum morphology Abnormality of the intrinsic pathway Progressive microcephaly Lissencephaly Infantile muscular hypotonia Decreased muscle mass Generalized joint laxity Redundant neck skin Delayed closure of the anterior fontanelle Thick hair Excessive wrinkled skin Psychomotor deterioration Prominent nasolabial fold Prominent veins on trunk Abnormal subcutaneous fat tissue distribution Thick cerebral cortex Fragmented elastic fibers in the dermis Long face Subretinal pigment epithelium hemorrhage Abnormal apolipoprotein level Ataxia Cerebellar atrophy Kyphosis Anemia Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia Mandibular prognathia High forehead Kyphoscoliosis Difficulty walking Heterotopia Hyperlordosis Long nose Abnormal vertebral morphology Bifid tongue Hydrops fetalis Joint contracture of the hand Short ribs Plagiocephaly Short long bone Patent foramen ovale Thoracic hypoplasia Thin ribs Fibular hypoplasia Protuberant abdomen Bell-shaped thorax Hearing abnormality Hypoplastic scapulae Hypoplastic fingernail Broad ribs Abnormal form of the vertebral bodies Metaphyseal cupping Abnormal diaphysis morphology Hypoplastic ischia Long clavicles Anterior rib cupping Broad long bones Narrow greater sacrosciatic notches Thin clavicles Posterior rib cupping Dumbbell-shaped long bone Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Rhizomelia Abnormality of the metaphysis Aminoaciduria Low-molecular-weight proteinuria Aplasia/Hypoplasia of the corpus callosum Epiphyseal dysplasia Poor speech Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Abnormality of the uterus Bicornuate uterus Short sternum Proximal tubulopathy Diaphragmatic eventration Macular hypoplasia Infra-orbital crease Non-acidotic proximal tubulopathy Abnormality of the ribs Respiratory insufficiency Syndactyly Severe short stature Skeletal dysplasia Camptodactyly Camptodactyly of finger Platyspondyly Narrow chest Micromelia Short palm Small hand Short foot Round face Limb undergrowth Intellectual disability, profound Urethral stenosis Dementia Dolichocephaly Ptosis Adducted thumb Dysarthria Gait disturbance Mitral regurgitation Blue sclerae Constipation Thin upper lip vermilion Aggressive behavior Decreased testicular size Wide mouth Abnormal cardiac septum morphology Synophrys Bulbous nose Heart murmur Thick eyebrow Downturned corners of mouth Highly arched eyebrow Small for gestational age Wide intermamillary distance Broad thumb Long eyelashes Low anterior hairline Slender finger Single umbilical artery Volvulus Speech apraxia Cavum septum pellucidum Diastema Nystagmus Neonatal respiratory distress Deeply set eye Arthrogryposis multiplex congenita Talipes calcaneovarus Abnormal cardiac ventricle morphology Hypertension Iridodonesis Tricuspid valve prolapse Ascending tubular aorta aneurysm Pectus excavatum Enlarged thorax Long toe Gastroesophageal reflux Abnormal echocardiogram Hypoxemia Craniosynostosis Premature birth Prominent scalp veins Oligohydramnios Lipoatrophy Increased body weight Relative macrocephaly Reduced subcutaneous adipose tissue Scaphocephaly Tricuspid regurgitation Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Unilateral cryptorchidism Hyporeflexia Spasticity Hypergonadotropic hypogonadism Ichthyosis Hirsutism Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Visual impairment Narrow forehead Thick lower lip vermilion Sparse scalp hair Decreased body weight Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Hyperextensible skin Coarse facial features Increased susceptibility to fractures Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Crumpled ear Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Abnormality of cardiovascular system morphology Hypogonadism Flexion contracture Abnormality of the fingernails Abnormality of the skeletal system Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Microcytic anemia Non-midline cleft lip Feeding difficulties in infancy Hip dislocation Polycystic ovaries Confusion Bilateral single transverse palmar creases Osteoporosis Hypoplasia of penis Convex nasal ridge Large fontanelles Webbed neck Anal atresia Congenital cataract Growth abnormality Severe global developmental delay Joint stiffness Brittle hair Oxycephaly Low-set, posteriorly rotated ears Photophobia Alopecia Widely patent sagittal suture


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