Downslanted palpebral fissures, and Narrow forehead

Diseases related with Downslanted palpebral fissures and Narrow forehead

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

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.

PONTOCEREBELLAR HYPOPLASIA TYPE 9 Is also known as pch9

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 9

Other less relevant matches:

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

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

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Narrow forehead

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Low-set ears Hypoplasia of the corpus callosum Microcephaly Ventriculomegaly Short stature Hyperreflexia Babinski sign Spasticity Long philtrum Absent speech Hypertonia Muscular hypotonia of the trunk Abnormality of the skeletal system Hearing impairment Abnormality of the pinna Facial hypotonia Progressive microcephaly Midface retrusion Wide nasal bridge Brain atrophy Brachydactyly Cerebral cortical atrophy Micrognathia Pes planus Flexion contracture Brachycephaly

Rare Symptoms - Less than 30% cases

Epicanthus Clinodactyly Cerebral visual impairment Postnatal microcephaly Posteriorly rotated ears Thin vermilion border Clonus Delayed myelination Thin upper lip vermilion Telecanthus Synophrys Coarse facial features Depressed nasal bridge Apnea Ptosis Bulbous nose Growth delay Conductive hearing impairment Nystagmus Global brain atrophy Skeletal muscle atrophy Muscular hypotonia Anteverted nares Short nose Cleft palate Triangular face Upslanted palpebral fissure Thick vermilion border Pectus excavatum Smooth philtrum Areflexia Decreased body weight Open mouth Myopia Frontal bossing Cerebellar atrophy Feeding difficulties Scoliosis Cryptorchidism Cognitive impairment Hypertelorism Macrocephaly Poor speech Overgrowth Strabismus Pointed chin Talipes Optic atrophy Dystonia Tented upper lip vermilion Everted lower lip vermilion Visual impairment Short palpebral fissure Hypoplasia of the frontal lobes Multifocal seizures Hernia Myoclonic spasms Limb joint contracture Muscle fibrillation Alopecia Mild microcephaly Dilatation Dysphasia Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Osteoporosis Hypogonadism Retrognathia Umbilical hernia Congenital contracture Blepharophimosis Uplifted earlobe Myopathic facies Proximal muscle weakness Gowers sign Arthrogryposis multiplex congenita Abnormality of the foot Kyphoscoliosis Hyporeflexia Kyphosis Myopathy Respiratory insufficiency Downturned corners of mouth Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Generalized muscle weakness Fever Motor delay Long face Multiple skeletal anomalies Facial palsy Muscle weakness Hyperextensible skin Joint laxity Stereotypy Talipes equinovarus Intellectual disability, severe Difficulty walking Neonatal hypotonia Wide mouth Short philtrum Spastic paraplegia Paraplegia Tetraplegia Waddling gait Spastic tetraplegia Amblyopia Narrow face Upper eyelid edema Drooling Decreased muscle mass Long nose Progressive spastic paraplegia Abnormality of the periventricular white matter Overweight Genu recurvatum Generalized joint laxity Spastic dysarthria Acetabular dysplasia Everted upper lip vermilion Shyness Infra-orbital fold Abnormal lip morphology Sparse hair Cutis laxa Ichthyosis Joint hypermobility Bruising susceptibility Hirsutism Single transverse palmar crease High myopia Thick lower lip vermilion Sparse scalp hair Bronchiectasis Gingival overgrowth Sparse and thin eyebrow Hypergonadotropic hypogonadism Status epilepticus Irregular dentition Redundant skin Increased susceptibility to fractures Aortic aneurysm Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Urethral stenosis Bradycardia Low-set, posteriorly rotated ears Neuronal loss in central nervous system Profound global developmental delay Pyloric stenosis Congenital muscular torticollis Increased head circumference Peripheral neuropathy Dysphagia Blindness Abnormality of the nervous system Peripheral axonal neuropathy Macroglossia Areflexia of lower limbs Short upper lip Congenital hip dislocation Failure to thrive Malar flattening Pectus carinatum Generalized tonic-clonic seizures Arachnodactyly Inability to walk Leukodystrophy Mutism CNS hypomyelination Overfolded helix Long toe Torticollis Chronic diarrhea Intrauterine growth retardation Turricephaly Headache Craniosynostosis Dolichocephaly Hypermetropia Hypotelorism Wormian bones Trigonocephaly Triphalangeal thumb Visual field defect Increased number of teeth Coronal craniosynostosis Hip dislocation Cleft soft palate Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Hydrocephalus Diarrhea Hypoglycemia Deeply set eye Delayed speech and language development Postnatal growth retardation Epileptic encephalopathy Perimembranous ventricular septal defect Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Pierre-Robin sequence Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Anterior open bite Sandal gap Prominent sternum Paroxysmal supraventricular tachycardia Encephalopathy Myoclonus Macrotia EEG abnormality Rigidity Dry skin Generalized myoclonic seizures Gliosis Round face Infantile muscular hypotonia Spina bifida occulta Abnormal cardiac septum morphology Nevus flammeus of the forehead High, narrow palate Small hand Broad nasal tip Broad-based gait Hemivertebrae Short chin Sacral dimple Severe intrauterine growth retardation Deep palmar crease Macrodontia Malar rash Decreased head circumference Short toe Ventricular septal defect Arrhythmia Abnormal heart morphology Delayed skeletal maturation Clinodactyly of the 5th finger Osteopenia Broad forehead Pulmonic stenosis Tachycardia Palpitations Dental crowding Prominent antihelix


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Reduced visual acuity, related diseases and genetic alterations