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 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;brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; teebi hypertelorism syndrome; teebi syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Strabismus
  • Ptosis
  • Cryptorchidism


SOURCES: OMIM SCTID ORPHANET GARD UMLS MONDO

More info about HYPERTELORISM, TEEBI TYPE

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:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: DOID UMLS OMIM MESH MONDO

More info about HOLOPROSENCEPHALY 7; HPE7

High match CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF

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.

CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF Is also known as ;palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM ORPHANET

More info about CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF

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Other less relevant matches:

High match CARPENTER SYNDROME 2; CRPT2

Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012).For a discussion of genetic heterogeneity of Carpenter syndrome, see {201000}.

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: MONDO OMIM UMLS

More info about CARPENTER SYNDROME 2; CRPT2

High match CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

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

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1-q23.2 microdeletion syndrome; del(17)(q23.1q23.2); monosomy 17q23.1-q23.2; monosomy 17q23.1q23.2

Related symptoms:

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


SOURCES: SCTID OMIM UMLS DOID GARD ORPHANET MONDO

More info about CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

High match CHROMOSOME 17q12 DELETION 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.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

High match NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1 ) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML ), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL Is also known as cbl syndrome, cbl mutation-associated syndrome;cbl syndrome; noonan syndrome-like disorder with jmml

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO OMIM ORPHANET UMLS

More info about NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

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 4p- syndrome; distal deletion 4p; distal monosomy 4p; telomeric deletion 4p

Related symptoms:

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


SOURCES: ORPHANET

More info about WOLF-HIRSCHHORN SYNDROME

High match CHROMOSOME 2q37 DELETION SYNDROME

Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).

CHROMOSOME 2q37 DELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome, brachydactyly-mental retardation syndrome;bdmr;albright hereditary osteodystrophy type 3; albright hereditary osteodystrophy-like syndrome; brachydactyly-intellectual disability syndrome; del(2)(q37); deletion 2q37; deletion 2q37-qter; monosomy 2q37-qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS GARD SCTID NCIT ORPHANET MONDO MESH

More info about CHROMOSOME 2q37 DELETION 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
Autosomal dominant inheritance Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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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


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Anteverted nares Abnormal facial shape Clinodactyly of the 5th finger Delayed speech and language development Wide nasal bridge Protruding ear Downslanted palpebral fissures Brachydactyly Strabismus Ptosis Downturned corners of mouth Hearing impairment Feeding difficulties Brachycephaly Atrial septal defect Shawl scrotum Pica Generalized hypotonia Low-set ears Short palm Autism Muscular hypotonia Broad forehead Thin upper lip vermilion Short foot Supernumerary nipple Clinodactyly Wide intermamillary distance Scoliosis Malar flattening Behavioral abnormality Aggressive behavior Sparse and thin eyebrow Postnatal growth retardation Retrognathia Micrognathia Abnormality of the skeletal system Talipes equinovarus Short neck Upslanted palpebral fissure Widely spaced teeth Intellectual disability Oxycephaly Failure to thrive High palate Short nose Macrocephaly Midface retrusion Umbilical hernia Pectus excavatum Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Sacral dimple Thick eyebrow Sensorineural hearing impairment Bilateral single transverse palmar creases Sandal gap Bicuspid aortic valve Tethered cord Long fingers Chronic otitis media Small hand Optic atrophy Everted lower lip vermilion Round face Microtia Finger clinodactyly Feeding difficulties in infancy Long toe Short thumb Thin vermilion border Hernia Finger syndactyly Retinopathy Growth delay Self-injurious behavior Intrauterine growth retardation Short chin Long philtrum Arrhythmia Gastroesophageal reflux Pes planus Prominent forehead Obesity Proptosis Webbed neck Bulbous nose Toe syndactyly Esotropia Sleep disturbance Congenital diaphragmatic hernia Coarse facial features Hypertrichosis Abnormal vertebral morphology Facial asymmetry Prominent nose Broad face Joint hypermobility Multicystic kidney dysplasia Hypermetropia Ataxia Focal seizures with impairment of consciousness or awareness High forehead Low posterior hairline Language impairment Motor delay Thick vermilion border Iris coloboma Intellectual disability, severe Macrotia Aortic valve stenosis Omphalocele Short toe Short attention span Hypospadias Cafe-au-lait spot Epileptic encephalopathy Cubitus valgus Deep philtrum Hepatosplenomegaly Absence seizures Overfolded helix Hydrops fetalis Redundant skin Dental crowding Tented upper lip vermilion Low anterior hairline Cupped ear Lymphedema Vasculitis Poor suck Gait ataxia Pleural effusion Myopia EEG abnormality Encephalopathy Triangular face Leukemia Wide mouth Sparse hair Vomiting Fever Autistic behavior Astigmatism Falls Open mouth Ascites Visual impairment Lymphoma Fine hair Juvenile myelomonocytic leukemia Mitral regurgitation Arteritis B-cell lymphoma Focal seizures Febrile seizures Chylothorax Abnormal form of the vertebral bodies Infantile muscular hypotonia Conductive hearing impairment Underdeveloped nasal alae Short metacarpal Wide nose Joint hyperflexibility Deeply set eye Attention deficit hyperactivity disorder Blepharophimosis Hyperactivity Eczema Congenital onset Hyporeflexia Pain Cognitive impairment Hypoplastic pubic rami Rib segmentation abnormalities Abnormality of the gallbladder Abnormality of the philtrum Broad nasal tip Scarring Aplasia cutis congenita of scalp Mania Pain insensitivity Abnormal aortic morphology Subvalvular aortic stenosis Low hanging columella Overweight Mild short stature Tracheomalacia Obsessive-compulsive behavior Nephroblastoma Narrow forehead Somatic mutation Narrow palpebral fissure Pyloric stenosis Laryngomalacia Short metatarsal Stereotypy Short phalanx of finger Sparse scalp hair Abdominal situs inversus High anterior hairline Polyphagia Low-set, posteriorly rotated ears Abnormality of the foot Abnormality of the kidney Cleft upper lip Abnormality of movement Abnormal cardiac septum morphology Dolichocephaly Short philtrum Abnormality of the genital system Hypodontia Osteoporosis Recurrent respiratory infections Delayed skeletal maturation Kyphosis Cleft palate Nystagmus Abnormality of lower lip Hemifacial hypoplasia Arachnodactyly Decreased fetal movement Aplasia/Hypoplasia of the nipples Abnormality of the mouth Rib fusion Abnormal lip morphology Calvarial skull defect Sclerocornea Short hallux Aplasia/Hypoplasia of the lungs Abnormal heart valve morphology Megalocornea Abnormality of the vertebral column Posteriorly rotated ears Disproportionate tall stature Abnormality of the immune system Preaxial hand polydactyly Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Abnormality of the urinary system Hemangioma Split hand Joint laxity Mild global developmental delay Polyhydramnios Clonus Exotropia Apraxia Blue sclerae Delayed myelination Tapered finger Synophrys Constipation Patent foramen ovale Cerebellar hypoplasia Hypertonia Hypoplasia of the corpus callosum Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Oculomotor apraxia Hypoplastic toenails Alobar holoprosencephaly Narrow nasal tip Camptodactyly Craniosynostosis Polydactyly Micropenis Syndactyly Autosomal recessive inheritance Cerebral white matter hypoplasia Bilateral ptosis Chordee Lower limb hypertonia Delayed CNS myelination Syringomyelia Central hypotonia Spinal canal stenosis Hypoplasia of the premaxilla Semilobar holoprosencephaly Genu valgum Abnormality of the helix Microphthalmia Hydrocephalus Female pseudohermaphroditism Advanced eruption of teeth Dimple chin Widow's peak Broad palm Smooth philtrum Ectopic kidney Preauricular pit Oral cleft Tetralogy of Fallot Prominent nasal bridge Ventricular septal defect Cleft lip Spontaneous abortion Parietal bossing Bilateral cleft lip Midline defect of the nose Single median maxillary incisor Median cleft lip and palate Bilateral microphthalmos Depressed nasal tip Panhypopituitarism Bilateral cleft lip and palate Dental malocclusion Median cleft lip Hypopituitarism Partial agenesis of the corpus callosum Flat occiput Holoprosencephaly Hypotelorism Pectus carinatum Postaxial polydactyly Cardiomyopathy Bilateral sensorineural hearing impairment Renal hypoplasia/aplasia Horizontal nystagmus Recurrent urinary tract infections Small nail Large fontanelles Stage 5 chronic kidney disease Oligohydramnios Unilateral renal agenesis Renal hypoplasia Nail dystrophy Hydronephrosis Elevated hepatic transaminase Mandibular prognathia Diabetes mellitus Schizophrenia Ovarian cyst Renal insufficiency Aplasia of the vagina Edema Splenomegaly Hypertension Myopathy Pancreatic aplasia Ureteral atresia Abnormality of upper lip Upper limb undergrowth Hypoplasia of the bladder Subcortical cerebral atrophy Urethral stenosis Ureterocele Hyperconvex nail Aplasia of the uterus Cerebral atrophy Chalazion Broad thumb Dextrocardia Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Transposition of the great arteries Hypoplastic nipples Cutaneous finger syndactyly Preaxial polydactyly Intellectual disability, mild Bilateral cryptorchidism Trigonocephaly Cutis laxa Coxa vara Narrow palate Situs inversus totalis Hyperreflexia Abnormality of cardiovascular system morphology Coxa magna Slender finger Retinopathy of prematurity Shallow acetabular fossae Patellar hypoplasia Bifid nose Moderate global developmental delay Blepharitis Congenital contracture Narrow mouth Long eyelashes Pulmonary arterial hypertension Abnormality of epiphysis morphology Limitation of joint mobility Small for gestational age Dyspnea Sporadic Broad columella



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Frontal bossing and Round face, related diseases and genetic alterations