Frontal bossing, and Upslanted palpebral fissure

Diseases related with Frontal bossing and Upslanted palpebral fissure

In the following list you will find some of the most common rare diseases related to Frontal bossing and Upslanted palpebral fissure that can help you solving undiagnosed cases.

Top matches:

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Other less relevant matches:

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Top 5 symptoms//phenotypes associated to Frontal bossing and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Upslanted palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Strabismus Scoliosis Anteverted nares Nystagmus Generalized hypotonia Low-set ears High palate Telecanthus Intellectual disability Seizures Smooth philtrum Delayed speech and language development High forehead Depressed nasal bridge Microcephaly Short stature Short nose Cryptorchidism Ventriculomegaly Macrocephaly Abnormal facial shape Feeding difficulties Highly arched eyebrow

Rare Symptoms - Less than 30% cases

Broad forehead Astigmatism Abnormal hair pattern Hypotelorism Downturned corners of mouth Short palpebral fissure Thick vermilion border Bulbous nose Proptosis Pointed chin Hearing impairment Myopia Wide mouth Single median maxillary incisor Protruding ear Hypoplasia of the corpus callosum Optic nerve hypoplasia Hip dysplasia Long face Dental malocclusion Brachydactyly Cleft lip Patent ductus arteriosus Long philtrum Kyphosis Short philtrum Ventricular septal defect Triangular face Flat occiput Midface retrusion Sparse hair Intellectual disability, moderate Downslanted palpebral fissures Preauricular skin tag Hydrocephalus Muscular hypotonia Growth delay Biparietal narrowing Brachycephaly Microphthalmia Intellectual disability, mild Chronic otitis media Proximal placement of thumb Increased mean corpuscular volume Colpocephaly Macrotia Abnormality of the dentition Periventricular gray matter heterotopia Thin upper lip vermilion Oral cleft Iris coloboma Prominent nose Omphalocele Holoprosencephaly Mitral regurgitation Autistic behavior Dilated cardiomyopathy Esotropia Congenital cataract Delayed puberty Abnormality of the foot Peripheral axonal neuropathy Oligohydramnios Distal amyotrophy Inability to walk Increased serum lactate Aciduria Alopecia Underdeveloped nasal alae Absence seizures Abnormality of mitochondrial metabolism Visual impairment Dysphagia Thrombocytopenia Autism Hypogonadism Partial agenesis of the corpus callosum Intrauterine growth retardation Bilateral cleft lip Median cleft lip Narrow palate Hypermetropia Poor speech Talipes Renal cyst Growth hormone deficiency Mitral valve prolapse Coarctation of aorta Renal dysplasia Deep philtrum Hydronephrosis Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Abnormality of the pinna Neonatal hypotonia Muscular hypotonia of the trunk Semilobar holoprosencephaly Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Parietal bossing Alobar holoprosencephaly Pes planus Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Talipes equinovarus Respiratory insufficiency Abnormal heart morphology Retrognathia Coarse facial features Pectus carinatum Gait ataxia Hypertrophic cardiomyopathy Blepharophimosis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Horseshoe kidney Intestinal malrotation Vesicoureteral reflux Thin vermilion border Craniosynostosis Synophrys Dimple chin Small for gestational age Generalized tonic-clonic seizures Arachnodactyly Sleep disturbance Narrow forehead Abnormal cardiac septum morphology Low posterior hairline Intellectual disability, severe Distichiasis Abnormality of the upper urinary tract Exotropia Hypopigmented skin patches Anal atresia Hypertension Exaggerated cupid's bow Optic disc hypoplasia Prominent metopic ridge Broad nasal tip Depressed nasal ridge Horizontal nystagmus Redundant skin Lacrimation abnormality Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Aplasia cutis congenita Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Periorbital fullness Stereotypy Obsessive-compulsive behavior Deeply set eye Peripheral neuropathy Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Hypoplastic right heart Ataxia Cataract Spasticity Encephalocele Fine hair Tricuspid regurgitation Optic atrophy Abnormality of the skeletal system Cardiomyopathy Cerebellar atrophy Absent speech Delayed skeletal maturation Scarring Mandibular prognathia Mesomelia Patent foramen ovale Large hands Broad philtrum Long fingers Overweight Turricephaly Long foot Cleft palate Short neck Bifid nose Agenesis of cerebellar vermis Conical tooth Gingival overgrowth Clinodactyly Calvarial skull defect Coronal craniosynostosis Scrotal hypoplasia Webbed neck Blue sclerae Broad thumb Long eyelashes Short phalanx of finger Infra-orbital crease


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