Frontal bossing, and Highly arched eyebrow

Diseases related with Frontal bossing and Highly arched eyebrow

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


Top matches:

High match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


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

High match 16Q24.3 MICRODELETION 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

Mendelian

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

Learn more

Other less relevant matches:

High match HOLOPROSENCEPHALY 7; HPE7


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

High match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

High match 17Q23.1Q23.2 MICRODELETION SYNDROME


17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

High match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

High match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

High match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

High match WOLF-HIRSCHHORN SYNDROME


Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Highly arched eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Epicanthus Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Frontal bossing and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Seizures Protruding ear Depressed nasal bridge Downslanted palpebral fissures Delayed speech and language development Short stature Generalized hypotonia Micrognathia Upslanted palpebral fissure Atrial septal defect Low-set ears Hearing impairment Scoliosis Intellectual disability High palate Shawl scrotum Brachydactyly Anteverted nares Microcephaly Chronic otitis media Patent ductus arteriosus Abnormal facial shape High forehead Downturned corners of mouth Talipes equinovarus Feeding difficulties Brachycephaly Clinodactyly of the 5th finger Clinodactyly Hypospadias Thin upper lip vermilion Ptosis Malar flattening Nystagmus Behavioral abnormality Widely spaced teeth Thick vermilion border Hernia Smooth philtrum Hypoplasia of the corpus callosum Autism

Rare Symptoms - Less than 30% cases


Long toe Macrocephaly Short nose Long fingers Retrognathia Sacral dimple Hydronephrosis Midface retrusion Agenesis of corpus callosum Single median maxillary incisor Hypermetropia Oral cleft Iris coloboma Omphalocele Short neck Pectus excavatum Abnormality of cardiovascular system morphology Congenital diaphragmatic hernia Finger syndactyly Abnormal cardiac septum morphology Retinopathy Arachnodactyly Intrauterine growth retardation Muscular hypotonia Sparse and thin eyebrow Craniosynostosis Tethered cord Proptosis Bilateral cryptorchidism Supernumerary nipple Finger clinodactyly Abnormal vertebral morphology Short thumb Hypertrichosis Prominent forehead Umbilical hernia Failure to thrive Cleft lip Schizophrenia Kyphosis Thick eyebrow Broad forehead Dimple chin Autistic behavior Hypertension Aggressive behavior Short philtrum Abnormal hair pattern Ventricular septal defect Broad nasal tip Bulbous nose Mandibular prognathia Long philtrum Horizontal nystagmus Cerebellar hypoplasia High hypermetropia Short hallux High anterior hairline Calvarial skull defect Thin vermilion border Wide nose Sclerocornea Broad palm Everted lower lip vermilion Long palpebral fissure Abnormality of the immune system Round face Ectopic kidney Abnormality of the vertebral column Aplasia/Hypoplasia of the lungs Abnormality of the mouth Preauricular pit Tetralogy of Fallot Megalocornea Prominent nasal bridge Heart murmur Deep philtrum Short toe Short chin Atrioventricular block Osteoporosis Arrhythmia Rib fusion Subcortical cerebral atrophy Multicystic kidney dysplasia Renal hypoplasia/aplasia Focal impaired awareness seizure Language impairment Unilateral renal agenesis Rib segmentation abnormalities Upper limb undergrowth Abnormality of the gallbladder Ovarian cyst Maturity-onset diabetes of the young Aplasia of the uterus Hyperechogenic kidneys Urethral stenosis Hyperconvex nail Joint laxity Ureterocele Abnormal lip morphology Abnormality of upper lip Hypoplasia of the bladder Aplasia of the vagina Ureteral atresia Pica Pancreatic aplasia Unicornuate uterus Abnormality of the philtrum Aplasia cutis congenita of scalp Sprengel anomaly Aplasia/Hypoplasia of the nipples Abdominal situs inversus Natal tooth Disproportionate tall stature Abnormal heart valve morphology Hypodontia Abnormality of the skull Abnormality of the foot Turricephaly Abnormality of movement Cleft upper lip Hypoplastic nipples Recurrent urinary tract infections Microtia Decreased fetal movement Cutaneous finger syndactyly Transposition of the great arteries External genital hypoplasia Low posterior hairline Dextrocardia Dolichocephaly Abnormality of the kidney Preaxial polydactyly Abnormal reproductive system morphology Recurrent respiratory infections Delayed skeletal maturation Intellectual disability, severe Optic atrophy Cleft palate Ataxia Aplasia of the middle phalanx of the hand Polysplenia Narrow naris Diaphragmatic eventration Abnormal cornea morphology Oxycephaly Cloverleaf skull Preaxial foot polydactyly Trigonocephaly Cutis laxa Lipoma Female pseudohermaphroditism Hemangioma Syndactyly Abnormality of the urinary system Abnormality of the thorax Abnormality of the skeletal system Sensorineural hearing impairment Broad eyebrow Abnormal form of the vertebral bodies Advanced eruption of teeth Abnormality of the helix Aplasia/Hypoplasia of the cerebellum Widow's peak Preaxial hand polydactyly Low-set, posteriorly rotated ears Abnormality of the genital system Obesity Coxa vara Postaxial polydactyly Narrow palate Situs inversus totalis Broad thumb Postaxial hand polydactyly Wide intermamillary distance Webbed neck Genu valgum Split hand Toe syndactyly Pectus carinatum Camptodactyly Kyphoscoliosis Micropenis Polydactyly Large fontanelles Dyspnea Small nail Hip dysplasia Biparietal narrowing Proximal placement of thumb Optic nerve hypoplasia Pointed chin Preauricular skin tag Mitral regurgitation Triangular face Colpocephaly Long face Astigmatism Dilated cardiomyopathy Wide mouth Intellectual disability, moderate Thrombocytopenia Increased mean corpuscular volume Periventricular gray matter heterotopia Dysphagia Partial agenesis of the corpus callosum Panhypopituitarism Broad face Bilateral cleft lip and palate Depressed nasal tip Bilateral cleft lip Median cleft lip Flat occiput Hydrocephalus Holoprosencephaly Hypotelorism Dental malocclusion Prominent nose Macrotia Microphthalmia Ventriculomegaly Myopia Median cleft lip and palate Sparse eyebrow Scarring Sparse hair Facial hypotonia Long nose Neurodevelopmental delay Obsessive-compulsive behavior Gingival overgrowth Depressed nasal ridge Cerebellar vermis hypoplasia Sleep disturbance Short distal phalanx of finger Anxiety Hyperactivity Posteriorly rotated ears Anal atresia Hypopigmented skin patches Visual impairment Periorbital fullness Congenital horizontal nystagmus Sparse lower eyelashes Abnormality of the sacroiliac joint Distichiasis Abnormality of the upper urinary tract Lacrimation abnormality Sparse lateral eyebrow Redundant skin Absent eyelashes Abnormal eyelash morphology Aplasia cutis congenita Prematurely aged appearance Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Bilateral microphthalmos Midline defect of the nose Renal hypoplasia Bilateral single transverse palmar creases Mild global developmental delay Blepharitis Slender finger Congenital contracture Bicuspid aortic valve Sandal gap Abnormality of epiphysis morphology Patellar hypoplasia Long eyelashes Pulmonary arterial hypertension Esotropia Limitation of joint mobility Small for gestational age Postnatal growth retardation Bifid nose Moderate global developmental delay Gastroesophageal reflux Nail dystrophy Bilateral sensorineural hearing impairment Oligohydramnios Short foot Short palm Stage 5 chronic kidney disease Facial asymmetry Elevated hepatic transaminase Shallow acetabular fossae Diabetes mellitus Cerebral atrophy Renal insufficiency Chalazion Coxa magna Retinopathy of prematurity Pes planus Narrow mouth Parietal bossing Hypertonia Apraxia Delayed myelination Tapered finger Joint hypermobility Synophrys Constipation Motor delay Exotropia Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Alobar holoprosencephaly Semilobar holoprosencephaly Blue sclerae Clonus Intellectual disability, mild Delayed CNS myelination Hyperreflexia Growth delay Cerebral white matter hypoplasia Narrow nasal tip Lower limb hypertonia Chordee Central hypotonia Oculomotor apraxia Syringomyelia Spinal canal stenosis Narrow nasal bridge Hypoplastic toenails Patent foramen ovale Bilateral ptosis Hypoplastic pubic rami



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Prominent forehead, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more