Downslanted palpebral fissures, and Apnea

Diseases related with Downslanted palpebral fissures and Apnea

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

Top matches:

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Other less relevant matches:

High match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

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

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

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

High match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Sleep apnea

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hearing impairment Obstructive sleep apnea Strabismus Intellectual disability Low-set, posteriorly rotated ears Dental crowding Abnormal facial shape Respiratory insufficiency Respiratory distress Dental malocclusion Abnormal heart morphology Hypoplasia of the corpus callosum Broad forehead Delayed myelination Visual impairment Microcephaly Snoring Failure to thrive Ptosis Posteriorly rotated ears Atresia of the external auditory canal Neonatal hypotonia Abnormality of the dentition Conductive hearing impairment Scoliosis High palate Short stature

Rare Symptoms - Less than 30% cases

Abnormality of the cardiovascular system Preauricular skin tag Abnormality of the outer ear Long philtrum Glossoptosis Muscular hypotonia Cognitive impairment Trigonocephaly Dysphasia Short nose Dysarthria Anxiety EEG abnormality Frontal bossing Hypoplasia of the maxilla Abnormal autonomic nervous system physiology Optic atrophy Cryptorchidism Mandibular prognathia Flexion contracture Choanal stenosis Choanal atresia Dysphagia Midface retrusion Abnormality of cardiovascular system morphology Iris coloboma Wide mouth Infantile muscular hypotonia Narrow forehead Round face Narrow mouth Bifid uvula Autistic behavior Microphthalmia Behavioral abnormality Small for gestational age Cataract Hand clenching Depressed nasal bridge Upslanted palpebral fissure Thin upper lip vermilion Uplifted earlobe Sensorineural hearing impairment Coloboma Protruding ear Coronal craniosynostosis Speech apraxia Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Echolalia Abnormality of chromosome segregation Central sleep apnea Bipolar affective disorder Poor eye contact High hypermetropia Open bite Abnormality of dental morphology Expressive language delay Receptive language delay Language impairment Polyhydramnios Muscular dystrophy Distal muscle weakness Hyperlordosis Abnormality of the eye Facial palsy Proximal muscle weakness Micropenis Muscle weakness Hyporeflexia Areflexia Hypospadias Myopathy Edema Talipes equinovarus Motor delay Oral-pharyngeal dysphagia Failure to thrive in infancy Growth delay Anterior open bite Wide nasal bridge Multiple suture craniosynostosis Epicanthus Delayed speech and language development Paroxysmal supraventricular tachycardia Prominent sternum Perimembranous ventricular septal defect Dysgerminoma Short 5th metacarpal Spondylolisthesis Narrow internal auditory canal Wolff-Parkinson-White syndrome 11 pairs of ribs Supraventricular tachycardia Myopia Abnormal sacrum morphology Limb muscle weakness Attention deficit hyperactivity disorder Patent foramen ovale Hypercholesterolemia Stereotypy Triangular face Smooth philtrum Hypermetropia Feeding difficulties in infancy Intellectual disability, mild Abnormality of the kidney Gastroesophageal reflux Short neck Hypothyroidism Abnormality of the nasopharynx Autism Hyperactivity Arthrogryposis multiplex congenita Talipes Abnormality of the skull High forehead Cloverleaf skull Convex nasal ridge Delayed puberty Craniosynostosis Cleft lip Sagittal craniosynostosis Proptosis Primary amenorrhea Brachycephaly Prominent forehead Cerebellar hypoplasia Headache Hydrocephalus Late-onset distal muscle weakness Amenorrhea Amblyopia Transient myeloproliferative syndrome Keratitis Turricephaly Papilledema Shallow orbits Scaphocephaly Syringomyelia Gonadal dysgenesis Melanocytic nevus Gonadoblastoma Arnold-Chiari malformation Hypopigmented skin patches Increased intracranial pressure Torticollis Acanthosis nigricans Conjunctivitis Narrow palate Mitochondrial depletion Severe hydrops fetalis Falls Foot dorsiflexor weakness Lambdoidal craniosynostosis Adducted thumb Craniofacial dysostosis EMG: myopathic abnormalities Abnormality of the cervical spine Respiratory insufficiency due to muscle weakness Hydrops fetalis Congenital contracture Pierre-Robin sequence Frequent falls Decreased fetal movement Waddling gait Generalized muscle weakness Inability to walk Short upper lip Pterygium Akinesia Calf muscle pseudohypertrophy Fetal akinesia sequence Multiple pterygia Neck flexor weakness Abnormality of the rib cage Slender build Type 1 muscle fiber predominance Nemaline bodies EMG: neuropathic changes Rocker bottom foot Cystic hygroma Spinal rigidity Bulbar palsy Pericardial effusion Mildly elevated creatine phosphokinase Multiple joint contractures Myopathic facies Large fontanelles Palpitations Proportionate short stature Hypoventilation Chronic lung disease Abnormality of the endocrine system Chronic constipation Hypothermia Cardiorespiratory arrest Abnormality of the mouth Polycythemia Abnormal pupil morphology Neuroblastoma Polyphagia Tracheomalacia Increased body weight Aganglionic megacolon Abnormal lung morphology Retrocerebellar cyst Hypoxemia Central hypoventilation Postural instability Esotropia Abnormality iris morphology Microtia Bullet-shaped distal phalanx of the hallux Ataxia Visual loss Malar flattening Laryngomalacia Neoplasm of the central nervous system Cortical gyral simplification Hypercapnia Abnormality of the autonomic nervous system Ganglioneuroblastoma Ganglioneuroma Triangular mouth Abnormality of temperature regulation Cyanosis Respiratory tract infection Encephalocele Impaired mastication Hypoplastic superior helix Anterior open-bite malocclusion Overfolding of the superior helices Speech articulation difficulties Difficulty in tongue movements Hamartoma of tongue Stenosis of the external auditory canal Mandibular condyle hypoplasia Microglossia Ankylosis External ear malformation Facial cleft Cupped ear Facial asymmetry Full cheeks Question mark ear Abnormality of the temporomandibular joint Hyperhidrosis Abnormality of the pinna Constipation Depressivity Obesity Diarrhea Macrocephaly Fever Pain Postauricular skin tag Hypoplasia of first ribs Abnormality of the crus of the helix Cleft helix Cleft at the superior portion of the pinna Vein of Galen aneurysmal malformation Aplasia/Hypoplasia of the external ear Periauricular skin pits Mandibular condyle aplasia Abnormal oral frenulum morphology Sparse eyelashes Transposition of the great arteries Muscle fibrillation Severe global developmental delay Hypoplasia of the frontal lobes Multifocal seizures Myoclonic spasms Limb joint contracture Mild microcephaly Toe syndactyly Abnormality of the skeletal system Global brain atrophy Abnormality of mitochondrial metabolism Clonus Bradycardia Progressive microcephaly Cerebral visual impairment Status epilepticus Brachydactyly Ventricular septal defect Neuronal loss in central nervous system Synophrys Sandal gap Spina bifida occulta Short toe Everted lower lip vermilion Tachycardia Pulmonic stenosis Osteopenia Anteverted nares Clinodactyly of the 5th finger Delayed skeletal maturation Arrhythmia Clinodactyly Pectus excavatum Camptodactyly of finger Short philtrum Arachnodactyly Epileptic encephalopathy Reduced number of teeth Upper eyelid coloboma Hypoplasia of the pharynx Projection of scalp hair onto lateral cheek Widely spaced primary teeth Ectopic adrenal gland Sparse lower eyelashes Lower eyelid coloboma Mandibulofacial dysostosis Small face Accessory spleen Lacrimal duct stenosis Bilateral microphthalmos Anotia Cleft soft palate Abnormality of the nose Agenesis of permanent teeth Abnormal parotid gland morphology Spasticity Brain atrophy Macrotia Gliosis Generalized myoclonic seizures Thin vermilion border Dry skin Muscular hypotonia of the trunk Rigidity Interphalangeal joint contracture of finger Myoclonus Central apnea Babinski sign Encephalopathy Hypertonia Cerebellar atrophy Ventriculomegaly Long fingers Hyperreflexia Cartilaginous trachea


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