Undiagnosed 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 to solve undiagnosed cases. Browse more diseases related to these clinical features.

High match HYPERTELORISM, TEEBI TYPE

Brachycephalofrontonasal dysplasia; Craniofrontonasal dysplasia, Teebi type; Teebi hypertelorism syndrome; Teebi syndrome

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;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).

Related symptoms:

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


SOURCES: SCTID OMIM ORPHANET UMLS GARD MONDO

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High match 16Q24.3 MICRODELETION SYNDROME

Del(16)(q24.3); Monosomy 16q24.3

16Q24.3 MICRODELETION SYNDROME Is also known as 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: MONDO GARD SCTID ORPHANET

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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: MESH MONDO OMIM UMLS DOID

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

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF Is also known as ;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.

Related symptoms:

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


SOURCES: OMIM ORPHANET MONDO UMLS

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

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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: OMIM MONDO UMLS

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

17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2; Monosomy 17q23.1q23.2

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

Related symptoms:

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


SOURCES: SCTID UMLS OMIM GARD DOID ORPHANET MONDO

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High match CHROMOSOME 17q12 DELETION SYNDROME

Del(17)(q12); Monosomy 17q12

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;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.

Related symptoms:

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


SOURCES: UMLS DOID MONDO OMIM GARD ORPHANET

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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;

Related symptoms:

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


SOURCES: MONDO ORPHANET UMLS OMIM

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High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

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


SOURCES: UMLS MONDO OMIM MESH DOID NCIT

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High match WOLF-HIRSCHHORN SYNDROME

4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p

WOLF-HIRSCHHORN SYNDROME Is also known as 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.

Related symptoms:

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


SOURCES: ORPHANET

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

Symptoms // Phenotype % Cases
Global developmental delay 80%
Cryptorchidism 70%
Hypertelorism 70%
Autosomal dominant inheritance 60%
Strabismus 60%
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Other less frequent symptoms

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

60% Seizures 60% Delayed speech and language development 60% Protruding ear 60% Epicanthus 50% Anteverted nares 50% Microcephaly 50% Wide nasal bridge 50% Downslanted palpebral fissures 50% Depressed nasal bridge 50% Short stature 50% Ptosis 40% Pica 40% Feeding difficulties 40% High palate 40% Micrognathia 40% Scoliosis 40% Hearing impairment 40% Shawl scrotum 40% Abnormal facial shape 40% Brachydactyly 40% Clinodactyly of the 5th finger 40% Atrial septal defect 40% Low-set ears 30% Autism 30% Patent ductus arteriosus 30% Pectus excavatum 30% Upslanted palpebral fissure 30% High forehead 30% Short nose 30% Clinodactyly 30% Failure to thrive 30% Broad forehead 30% Thin upper lip vermilion 30% Chronic otitis media 30% Oxycephaly 30% Postnatal growth retardation 30% Long philtrum 30% Brachycephaly 30% Generalized hypotonia 30% Downturned corners of mouth 30% Talipes equinovarus 30% Widely spaced teeth 30% Retrognathia 20% Everted lower lip vermilion 20% Prominent nose 20% Behavioral abnormality 20% Iris coloboma 20% Gastroesophageal reflux 20% Short attention span 20% Tethered cord 20% Intrauterine growth retardation 20% Hernia 20% Agenesis of corpus callosum 20% Abnormality of the skeletal system 20% Midface retrusion 20% Aggressive behavior 20% Macrocephaly 20% Ventricular septal defect 20% Malar flattening 20% Muscular hypotonia 20% Microtia 20% Motor delay 20% Joint hypermobility 20% Wide intermamillary distance 20% Webbed neck 20% Hypertrichosis 20% Sparse and thin eyebrow 20% Short thumb 20% Hypospadias 20% Abnormal vertebral morphology 20% Supernumerary nipple 20% Low posterior hairline 20% Facial asymmetry 20% Intellectual disability, severe 20% Finger clinodactyly 20% Ataxia 20% Optic atrophy 20% Growth delay 20% Thick eyebrow 20% Macrotia 20% Hypoplasia of the corpus callosum 20% Kyphosis 20% Wide mouth 20% Hypermetropia 20% Long toe 20% Short palm 20% Sandal gap 20% Short foot 20% Bicuspid aortic valve 20% Single median maxillary incisor 20% Language impairment 20% Sacral dimple 20% Long fingers 20% Myopia 20% Visual impairment 20% Prominent forehead 20% Nystagmus 20% Proptosis 20% Smooth philtrum 20% Umbilical hernia 20% Mitral regurgitation 20% Astigmatism 20% Focal seizures with impairment of consciousness or awareness 20% Bulbous nose 20% Retinopathy 20% Esotropia 20% Thick vermilion border 20% Intellectual disability 20% Triangular face 20% Short neck 20% Omphalocele 10% Ascites 10% Oligohydramnios 10% Deep philtrum 10% Renal hypoplasia/aplasia 10% Lymphoma 10% Stage 5 chronic kidney disease 10% Horizontal nystagmus 10% Renal hypoplasia 10% Multicystic kidney dysplasia 10% Bilateral sensorineural hearing impairment 10% Recurrent urinary tract infections 10% Hydrops fetalis 10% Large fontanelles 10% Small nail 10% Fine hair 10% Vasculitis 10% Aortic valve stenosis 10% Lymphedema 10% Ureterocele 10% Falls 10% Pancreatic aplasia 10% Urethral stenosis 10% Aplasia of the uterus 10% Upper limb undergrowth 10% Ovarian cyst 10% Unilateral renal agenesis 10% Subcortical cerebral atrophy 10% Hypoplasia of the bladder 10% Abnormality of upper lip 10% Aplasia of the vagina 10% Ureteral atresia 10% Myopathy 10% Leukemia 10% Hypertension 10% Splenomegaly 10% Edema 10% Cardiomyopathy 10% Polyhydramnios 10% Posteriorly rotated ears 10% Hepatosplenomegaly 10% Joint laxity 10% Schizophrenia 10% Sparse hair 10% Hyperconvex nail 10% Open mouth 10% Redundant skin 10% Decreased fetal movement 10% Preaxial hand polydactyly 10% Aplasia/Hypoplasia of the cerebellum 10% Abnormality of the urinary system 10% Hemangioma 10% Split hand 10% Abnormal form of the vertebral bodies 10% Congenital diaphragmatic hernia 10% Abnormality of the immune system 10% Hypodontia 10% Arachnodactyly 10% Abnormality of the foot 10% Abnormality of the kidney 10% Abnormal cardiac septum morphology 10% Abnormality of movement 10% Cleft upper lip 10% Abnormality of the thorax 10% Disproportionate tall stature 10% Short philtrum 10% Rib fusion 10% Rib segmentation abnormalities 10% Abnormality of the gallbladder 10% Abnormality of the philtrum 10% Abdominal situs inversus 10% Aplasia cutis congenita of scalp 10% Aplasia/Hypoplasia of the nipples 10% High anterior hairline 10% Abnormal lip morphology 10% Abnormality of the vertebral column 10% Calvarial skull defect 10% Sclerocornea 10% Short hallux 10% Aplasia/Hypoplasia of the lungs 10% Abnormal heart valve morphology 10% Abnormality of the mouth 10% Megalocornea 10% Dolichocephaly 10% Low-set, posteriorly rotated ears 10% Poor suck 10% Fever 10% Autistic behavior 10% Feeding difficulties in infancy 10% EEG abnormality 10% Coarse facial features 10% Gait ataxia 10% Encephalopathy 10% Vomiting 10% Juvenile myelomonocytic leukemia 10% Sleep disturbance 10% Arteritis 10% Chylothorax 10% B-cell lymphoma 10% Pleural effusion 10% Overfolded helix 10% Cubitus valgus 10% Cafe-au-lait spot 10% Small hand 10% Focal seizures 10% Abnormality of the genital system 10% Self-injurious behavior 10% Osteoporosis 10% Recurrent respiratory infections 10% Delayed skeletal maturation 10% Cleft palate 10% Abnormality of lower lip 10% Hemifacial hypoplasia 10% Polyphagia 10% Infantile muscular hypotonia 10% Febrile seizures 10% Cupped ear 10% Short chin 10% Tented upper lip vermilion 10% Absence seizures 10% Low anterior hairline 10% Dental crowding 10% Epileptic encephalopathy 10% Nail dystrophy 10% Cutaneous finger syndactyly 10% Hydronephrosis 10% Median cleft lip and palate 10% Spontaneous abortion 10% Dental malocclusion 10% Hypotelorism 10% Holoprosencephaly 10% Flat occiput 10% Partial agenesis of the corpus callosum 10% Hypopituitarism 10% Median cleft lip 10% Bilateral cleft lip and palate 10% Bilateral cleft lip 10% Panhypopituitarism 10% Depressed nasal tip 10% Broad face 10% Bilateral microphthalmos 10% Midline defect of the nose 10% Microphthalmia 10% Parietal bossing 10% Semilobar holoprosencephaly 10% Alobar holoprosencephaly 10% Hypoplasia of the premaxilla 10% Absent nasal septal cartilage 10% Fusion of the left and right thalami 10% Flat nasal alae 10% Hypertonia 10% Cerebellar hypoplasia 10% Constipation 10% Clonus 10% Synophrys 10% Tapered finger 10% Delayed myelination 10% Cleft lip 10% Hydrocephalus 10% Apraxia 10% Advanced eruption of teeth 10% Arrhythmia 10% Finger syndactyly 10% Prominent nasal bridge 10% Thin vermilion border 10% Round face 10% Tetralogy of Fallot 10% Oral cleft 10% Short toe 10% Preauricular pit 10% Ectopic kidney 10% Broad palm 10% Abnormality of the helix 10% Widow's peak 10% Dimple chin 10% Female pseudohermaphroditism 10% Periventricular gray matter heterotopia 10% Pointed chin 10% Increased mean corpuscular volume 10% Colpocephaly 10% Abnormal hair pattern 10% Biparietal narrowing 10% Proximal placement of thumb 10% Optic nerve hypoplasia 10% Preauricular skin tag 10% Ventriculomegaly 10% Hip dysplasia 10% Long face 10% Dilated cardiomyopathy 10% Intellectual disability, moderate 10% Thrombocytopenia 10% Dysphagia 10% Blue sclerae 10% Exotropia 10% Elevated hepatic transaminase 10% Bilateral single transverse palmar creases 10% Narrow naris 10% Aplasia of the middle phalanx of the hand 10% Hyperreflexia 10% Intellectual disability, mild 10% Abnormality of cardiovascular system morphology 10% Narrow mouth 10% Pes planus 10% Sporadic 10% Dyspnea 10% Small for gestational age 10% Limitation of joint mobility 10% Abnormality of epiphysis morphology 10% Pulmonary arterial hypertension 10% Long eyelashes 10% Congenital contracture 10% Hypoplastic nipples 10% Slender finger 10% Blepharitis 10% Mild global developmental delay 10% Moderate global developmental delay 10% Patellar hypoplasia 10% Bifid nose 10% Shallow acetabular fossae 10% Retinopathy of prematurity 10% Coxa magna 10% Chalazion 10% Renal insufficiency 10% Cerebral atrophy 10% Diabetes mellitus 10% Mandibular prognathia 10% Diaphragmatic eventration 10% Transposition of the great arteries 10% Oculomotor apraxia 10% Syndactyly 10% Patent foramen ovale 10% Hypoplastic toenails 10% Bilateral ptosis 10% Spinal canal stenosis 10% Central hypotonia 10% Syringomyelia 10% Delayed CNS myelination 10% Lower limb hypertonia 10% Chordee 10% Cerebral white matter hypoplasia 10% Narrow nasal tip 10% Autosomal recessive inheritance 10% Sensorineural hearing impairment 10% Obesity 10% Micropenis 10% Dextrocardia 10% Situs inversus totalis 10% Preaxial polydactyly 10% Bilateral cryptorchidism 10% Trigonocephaly 10% Cutis laxa 10% Coxa vara 10% Narrow palate 10% Broad thumb 10% Polydactyly 10% Postaxial polydactyly 10% Genu valgum 10% Toe syndactyly 10% Pectus carinatum 10% Camptodactyly 10% Craniosynostosis 10% Hypoplastic pubic rami



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Frontal bossing and Round face, related diseases and genetic alterations