Downslanted palpebral fissures, and Cough

Diseases related with Downslanted palpebral fissures and Cough

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

Top matches:

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Low match MYHRE SYNDROME

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

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

Other less relevant matches:

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hypertelorism Hearing impairment Micrognathia Tracheomalacia Generalized hypotonia Low-set ears Atrial septal defect Bifid uvula Conductive hearing impairment Thin upper lip vermilion Posteriorly rotated ears Agenesis of corpus callosum Abnormal heart morphology Behavioral abnormality Strabismus

Rare Symptoms - Less than 30% cases

Aortic valve stenosis Hypoplasia of the epiglottis Ataxia Depressed nasal bridge Cavum septum pellucidum Intestinal malrotation Short stature Coarctation of aorta Failure to thrive Cryptorchidism Esotropia Narrow mouth Laryngomalacia Stridor Oral-pharyngeal dysphagia Feeding difficulties Camptodactyly of finger Pulmonary hypoplasia Absent speech Encephalopathy Respiratory tract infection Autistic behavior Hypoplasia of the maxilla Unilateral cleft lip Thick eyebrow EEG abnormality Astigmatism Joint stiffness Small for gestational age Short philtrum Microtia Growth delay Microcephaly Sensorineural hearing impairment Constipation Oral cleft Midface retrusion Recurrent infections Microphthalmia Malar flattening Short neck Inguinal hernia Epicanthus Ventricular septal defect Patent ductus arteriosus Hypospadias Hernia Abnormality of cardiovascular system morphology Dystonia Submucous cleft hard palate Severe global developmental delay Blepharophimosis Retrognathia Telecanthus Cataract Anal atresia Prominent nasal bridge Abnormal cardiac septum morphology Cleft lip Coloboma Ptosis Restrictive cardiomyopathy Cyanosis Loss of consciousness Myoclonus Thick corpus callosum Abnormality of movement Hyperreflexia Laterally extended eyebrow Generalized-onset seizure Lethargy Absence seizures Drooling Cerebellar hypoplasia Epispadias Epileptic encephalopathy Large iliac wings Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Esophageal stenosis Hypoplasia of eyelid Pseudopapilledema Stiff skin Abnormality of the penis Constrictive median neuropathy Abnormal lip morphology Peptic ulcer Abnormality of the menstrual cycle Gingival cleft Erythema Focal-onset seizure Lacrimal duct atresia Highly arched eyebrow High forehead Craniofacial hyperostosis Hyporeflexia Dacryocystocele Femoral hernia Rhinorrhea Sinusitis Nasolacrimal duct obstruction Periorbital edema Nasal obstruction Chronic sinusitis Cellulitis Epiphora Conjunctivitis Dacryocystitis Macrocytic anemia Hypsarrhythmia White hair Arachnodactyly Toe syndactyly Low-set, posteriorly rotated ears Neonatal hypotonia Atelectasis Abnormality of the upper limb Abnormality of finger Long fingers Acrocyanosis Synostosis of carpal bones Cutaneous finger syndactyly Narrow nasal bridge Tented upper lip vermilion Abnormality of the face Spastic paraplegia Interphalangeal joint contracture of finger Central apnea Aglossia Broad forehead Retrocerebellar cyst Snoring Obstructive sleep apnea Cortical gyral simplification Sleep apnea Delayed myelination Apnea Small face Upslanted palpebral fissure Hypoplasia of the corpus callosum Scoliosis Bullet-shaped distal phalanx of the hallux Abnormality iris morphology Abnormal oral frenulum morphology Hand clenching Synotia Proboscis Tetraparesis High-pitched cry Mixed hearing impairment Sparse eyebrow Sparse and thin eyebrow Congenital diaphragmatic hernia Webbed neck Anemia Multifocal epileptiform discharges Severe sensorineural hearing impairment Posterior fossa cyst Abnormal cortical gyration Spastic tetraparesis Severe muscular hypotonia Leukodystrophy Tall stature Choreoathetosis Tracheal stenosis Broad neck Alobar holoprosencephaly Atresia of the external auditory canal Laryngeal hypoplasia Mandibular aplasia Hyperplasia of the maxilla Stenosis of the external auditory canal Microglossia Transposition of the great arteries Abnormality of the outer ear Granulocytopenia Holoprosencephaly Situs inversus totalis Hypotelorism Abnormality of the eye Polyhydramnios Talipes equinovarus Mandibulofacial dysostosis Broad ribs Specific learning disability Hypoplastic iliac wing Widow's peak Rocker bottom foot Prominent occiput Weak cry Limb dystonia Abnormality of the ureter Anal stenosis Prominent metopic ridge Hiatus hernia Bilateral cleft lip Megalencephaly Diastasis recti Bilateral cleft lip and palate Abnormality of the respiratory system Enlarged cisterna magna Concave nasal ridge Bifid scrotum Bicornuate uterus Sagittal craniosynostosis Dilated fourth ventricle Ankyloglossia Inspiratory stridor Metopic synostosis Absent gallbladder Cranial asymmetry Aplasia/Hypoplasia of the cerebellar vermis Hoarse cry Short lingual frenulum Laryngeal cleft Vascular ring Rectal atresia Tracheoesophageal fistula Abnormality of the urinary system Rectourethral fistula Hydronephrosis Muscular hypotonia High palate Wide nasal bridge Frontal bossing Dysphagia Ventriculomegaly Anteverted nares Intellectual disability, mild Rod-cone dystrophy Prominent forehead Cerebral cortical atrophy Micropenis Gastroesophageal reflux Umbilical hernia Abnormality of the kidney Recurrent upper respiratory tract infections Craniosynostosis Smooth philtrum Cleft upper lip Iris coloboma High, narrow palate Vesicoureteral reflux Dandy-Walker malformation Pulmonary arterial hypertension Cerebellar vermis hypoplasia Recurrent urinary tract infections Aspiration Hoarse voice Cardiac arrest Anosmia Posterior pharyngeal cleft Absent pulmonary artery Chronic constipation Overlapping toe Choanal atresia Abnormal lung morphology Abnormality of the metaphysis Thickened skin Abnormality of epiphysis morphology Short toe EMG abnormality Narrow palpebral fissure Short long bone Precocious puberty Abnormality of the voice Cone-shaped epiphysis Radial deviation of finger Skeletal muscle hypertrophy 2-3 toe syndactyly Fine hair Blurred vision External genital hypoplasia Pericardial effusion Short finger Vertebral fusion High hypermetropia Abnormal joint morphology Thickened calvaria Keratoconus Arthropathy Pericarditis Wheezing Irregular vertebral endplates Oligomenorrhea Short palpebral fissure Abnormality of the ribs Flexion contracture Hypogonadism Motor delay Hypertension Brachydactyly Intrauterine growth retardation Macrocephaly Abnormality of the skeletal system Respiratory insufficiency Cardiomyopathy Cerebellar atrophy Syndactyly Obesity Clinodactyly Recurrent respiratory infections Severe short stature Hyperactivity Abnormality of the cardiovascular system Platyspondyly Amenorrhea Limitation of joint mobility Progressive cerebellar ataxia Short palm Thin vermilion border Hypermetropia Scarring Respiratory failure Sparse hair Postnatal growth retardation Camptodactyly Deeply set eye Mandibular prognathia Autism Uplifted earlobe


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