Downslanted palpebral fissures, and Brachycephaly

Diseases related with Downslanted palpebral fissures and Brachycephaly

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


Top matches:

High match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

High match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

High 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

High match KLEEFSTRA SYNDROME 2; KLEFS2


Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

High match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Brachycephaly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Deeply set eye Intellectual disability High palate Narrow mouth Dental crowding Low-set ears Synophrys Long philtrum Short stature Microcephaly Scoliosis Midface retrusion Generalized hypotonia Everted lower lip vermilion Hypotelorism

Rare Symptoms - Less than 30% cases


Large fontanelles Mitral regurgitation Small hand Brachyturricephaly Short nose Prominent forehead Talipes Arachnodactyly Recurrent fractures Ventriculomegaly Talipes equinovarus Autism Joint hypermobility Triangular face Dolichocephaly Craniosynostosis Congenital hip dislocation Delayed speech and language development Hydrocephalus Hypoplasia of the maxilla Kyphosis Myopia Micrognathia Epicanthus Failure to thrive Blue sclerae Protruding ear Ptosis Hip dislocation Prominent supraorbital ridges Telecanthus Turricephaly Broad palm Long face Motor delay Absent speech Hernia Arthralgia Agenesis of corpus callosum Malar flattening Inguinal hernia Broad nail Abnormality of the skeletal system Myopathy Marked muscular hypertrophy Intrauterine growth retardation Pugilistic facies Myalgia Pain Cerebral atrophy Dislocation of toes Facial hypotonia Growth delay Limited elbow movement Osteoporosis Camptodactyly Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Hyperplasia of the maxilla Joint dislocation Delayed gross motor development Hypoplasia of the musculature Adducted thumb Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Camptodactyly of toe Progressive pes cavus Fragile skin Scarring Muscle weakness Redundant skin Mandibular prognathia Narrow nose Overgrowth Short palpebral fissure Fine hair Sparse scalp hair Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Spinal cord compression Dental malocclusion Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly Underdeveloped nasal alae Microcornea Gastroesophageal reflux Prominent superficial veins Osteopenia Joint laxity Postnatal growth retardation Broad forehead Bulbous nose Bowing of the long bones Cutis laxa Growth abnormality Hallux valgus Premature skin wrinkling Colpocephaly Delayed eruption of teeth Narrow nasal ridge Abnormal glycosylation Cataract Abnormality of the dentition Syndactyly Microphthalmia Clinodactyly Delayed skeletal maturation Toe syndactyly Thin vermilion border Short foot Eclabion Heterotopia Skeletal muscle hypertrophy Joint stiffness Cafe-au-lait spot Pointed chin Narrow palate Strabismus Cleft palate Anteverted nares Abnormality of cardiovascular system morphology Proptosis Low-set, posteriorly rotated ears Camptodactyly of finger EEG abnormality Narrow chest Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Attention deficit hyperactivity disorder Thin upper lip vermilion Upslanted palpebral fissure Cleft soft palate Headache Hypermetropia Narrow forehead Wormian bones Trigonocephaly Triphalangeal thumb Visual field defect Increased number of teeth Coronal craniosynostosis Cloverleaf skull Intellectual disability, mild Anterior plagiocephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Ataxia Gait ataxia Macrotia Short philtrum Thick lower lip vermilion Large hands Behavioral abnormality Hyperactivity Abnormality of the voice Cardiomyopathy Generalized-onset seizure Spastic tetraplegia Pachygyria Brachydactyly Short toe Plagiocephaly Hypoplasia of the brainstem Toe walking Cortical dysplasia Congestive heart failure Focal-onset seizure Elevated serum creatine phosphokinase Pes cavus Posteriorly rotated ears Retrognathia Difficulty walking Hypertrophic cardiomyopathy Wide nose Prominent nose Ventricular hypertrophy Joint contracture of the hand Waddling gait Tetraplegia Coarse facial features Gait disturbance Aggressive behavior Developmental regression Thick eyebrow Highly arched eyebrow Dandy-Walker malformation Cerebellar vermis hypoplasia Mild microcephaly Duplication of thumb phalanx Muscular hypotonia Peripheral neuropathy Dysphagia Downturned corners of mouth Hypoplasia of the corpus callosum Intellectual disability, severe Hyporeflexia Cerebellar hypoplasia Kyphoscoliosis Wide mouth Abnormality of the foot Peripheral axonal neuropathy Polymicrogyria Inability to walk 2-4 toe cutaneous syndactyly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Colon cancer, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more