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. Browse more diseases related to these clinical features.

High match AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA

The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by Fraser et al., 1987).

AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA Is also known as pseudoaminopterin syndrome

Related symptoms:

  • Rudimentary postaxial polydactyly of hands
  • Frontal upsweep of hair
  • Narrow palpebral fissure
  • Thoracic scoliosis
  • Megalencephaly


SOURCES: ORPHANET OMIM

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

Related symptoms:

  • Cerebral white matter hypoplasia
  • Lower limb hypertonia
  • Tethered cord
  • Chordee
  • Delayed CNS myelination


SOURCES: OMIM ORPHANET

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High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1

Related symptoms:

  • Abnormality of lower lip
  • Short attention span
  • Short chin
  • Polyphagia
  • Language impairment


SOURCES: OMIM

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High match HYPERTELORISM, TEEBI TYPE

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia;

Related symptoms:

  • Female pseudohermaphroditism
  • Dimple chin
  • Advanced eruption of teeth
  • Widow's peak
  • Abnormality of the helix


SOURCES: ORPHANET OMIM

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High match TEMTAMY SYNDROME

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).

TEMTAMY SYNDROME Is also known as mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;

Related symptoms:

  • Short 2nd toe
  • Lop ear
  • Hypoplasia of teeth
  • Aortic dilatation
  • Ectopia lentis


SOURCES: ORPHANET OMIM

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High match 16Q24.3 MICRODELETION SYNDROME

Related symptoms:

  • Colpocephaly
  • Periventricular gray matter heterotopia
  • Single median maxillary incisor
  • Increased mean corpuscular volume
  • Abnormal hair pattern


SOURCES: ORPHANET

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High match CARPENTER SYNDROME 2

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:

  • Aplasia of the middle phalanx of the hand
  • Narrow naris
  • Oxycephaly
  • Preaxial polydactyly
  • Shawl scrotum


SOURCES: OMIM

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High match CHROMOSOME 17Q23.1-Q23.2 DELETION SYNDROME

CHROMOSOME 17Q23.1-Q23.2 DELETION SYNDROME Is also known as ;

Related symptoms:

  • Coxa magna
  • Shallow acetabular fossae
  • Patellar hypoplasia
  • Bifid nose
  • Moderate global developmental delay


SOURCES: ORPHANET OMIM

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High match 8Q22.1 MICRODELETION SYNDROME

Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010).

8Q22.1 MICRODELETION SYNDROME Is also known as chromosome 8q22.1 deletion syndrome;

Related symptoms:

  • Underfolded helix
  • Conspicuously happy disposition
  • Happy demeanor
  • Frontal upsweep of hair
  • Prominent glabella


SOURCES: ORPHANET OMIM

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High match CHROMOSOME 17Q12 DELETION SYNDROME

CHROMOSOME 17Q12 DELETION SYNDROME Is also known as ;

Related symptoms:

  • Pica
  • Pancreatic aplasia
  • Ureteral atresia
  • Hypoplasia of the bladder
  • Aplasia of the vagina


SOURCES: OMIM ORPHANET

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

Symptoms // Phenotype % Cases
Cryptorchidism 70%
Global developmental delay 70%
Hypertelorism 60%
Low-set ears 60%
Short stature 50%
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Other less frequent symptoms

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

50% Micrognathia 50% High palate 50% Protruding ear 50% Depressed nasal bridge 40% Autosomal recessive inheritance 40% Clinodactyly of the 5th finger 40% Microcephaly 40% Autosomal dominant inheritance 40% Shawl scrotum 40% Downslanted palpebral fissures 40% Wide nasal bridge 40% Brachydactyly 40% Long philtrum 40% Brachycephaly 40% Retrognathia 40% Delayed speech and language development 30% Short nose 30% Widely spaced teeth 30% Intellectual disability 30% Anteverted nares 30% Hearing impairment 30% Epicanthus 30% Talipes equinovarus 30% Thin upper lip vermilion 30% Sandal gap 30% Feeding difficulties 30% Myopia 30% Sparse and thin eyebrow 30% Umbilical hernia 30% Scoliosis 30% Strabismus 30% Patent ductus arteriosus 30% Atrial septal defect 30% Macrocephaly 20% Narrow mouth 20% Hypermetropia 20% Pectus excavatum 20% Language impairment 20% Ventricular septal defect 20% Bulbous nose 20% Long fingers 20% Astigmatism 20% Abnormal hair pattern 20% Malar flattening 20% Thick eyebrow 20% Short foot 20% Postnatal growth retardation 20% Finger syndactyly 20% Pes planus 20% Sporadic 20% Aggressive behavior 20% Limitation of joint mobility 20% Wide mouth 20% Facial asymmetry 20% Ventriculomegaly 20% Short toe 20% Visual impairment 20% Intellectual disability, mild 20% Long face 20% Frontal upsweep of hair 20% Telecanthus 20% Long toe 20% Ptosis 20% Micropenis 20% Downturned corners of mouth 20% Intrauterine growth retardation 20% Muscular hypotonia 20% Craniosynostosis 20% Abnormal facial shape 20% Upslanted palpebral fissure 20% Supernumerary nipple 20% Arachnodactyly 20% High forehead 20% Autism 20% Clinodactyly 20% Smooth philtrum 20% Seizures 20% Tapered finger 20% Short neck 20% Camptodactyly 20% Generalized hypotonia 20% Chronic otitis media 20% Hypoplastic nipples 20% Joint contracture of the hand 20% Wide intermamillary distance 20% Posteriorly rotated ears 20% Short thumb 20% Motor delay 20% Hypoplasia of the corpus callosum 20% Narrow forehead 20% Prominent forehead 10% Webbed neck 10% Behavioral abnormality 10% Dyspnea 10% Small for gestational age 10% Broad thumb 10% Coxa vara 10% Abnormality of epiphysis morphology 10% Gastroesophageal reflux 10% Bifid nose 10% Pulmonary arterial hypertension 10% Sensorineural hearing impairment 10% Slender finger 10% Patellar hypoplasia 10% Shallow acetabular fossae 10% Congenital contracture 10% Mild global developmental delay 10% Failure to thrive 10% Coxa magna 10% Blepharitis 10% Bilateral single transverse palmar creases 10% Midface retrusion 10% Bicuspid aortic valve 10% Obesity 10% Sacral dimple 10% Moderate global developmental delay 10% Long eyelashes 10% Pectus carinatum 10% Hyperreflexia 10% Rudimentary postaxial polydactyly of hands 10% Underfolded helix 10% Small nail 10% Urethral stenosis 10% Subcortical cerebral atrophy 10% Hyperconvex nail 10% Focal seizures with impairment of consciousness or awareness 10% Ovarian cyst 10% Aplasia of the uterus 10% Bilateral sensorineural hearing impairment 10% Unilateral renal agenesis 10% Schizophrenia 10% Horizontal nystagmus 10% Hypertrichosis 10% Recurrent urinary tract infections 10% Stage 5 chronic kidney disease 10% Ureterocele 10% Renal hypoplasia 10% Multicystic kidney dysplasia 10% Renal hypoplasia/aplasia 10% Oligohydramnios 10% Large fontanelles 10% Nail dystrophy 10% Short palm 10% Diabetes mellitus 10% Hydronephrosis 10% Elevated hepatic transaminases 10% Mandibular prognathia 10% Cerebral atrophy 10% Upper limb undergrowth 10% Abnormality of upper lip 10% Conspicuously happy disposition 10% Sparse eyelashes 10% Happy demeanor 10% Prominent glabella 10% Labial hypoplasia 10% Abnormality of the nares 10% Skin dimples 10% Broad neck 10% Lack of skin elasticity 10% Submucous cleft hard palate 10% Abnormality of the antihelix 10% Mask-like facies 10% Postnatal microcephaly 10% Low anterior hairline 10% Short palpebral fissure 10% Aplasia of the vagina 10% Depressed nasal ridge 10% Hypoplasia of the maxilla 10% Abnormality of the pinna 10% Interphalangeal joint contracture of finger 10% Hypogonadism 10% Situs inversus totalis 10% Camptodactyly of finger 10% Blepharophimosis 10% Abnormality of the dentition 10% Pica 10% Pancreatic aplasia 10% Ureteral atresia 10% Hypoplasia of the bladder 10% Narrow palate 10% Agenesis of corpus callosum 10% Trigonocephaly 10% Feeding difficulties in infancy 10% Polyphagia 10% Self-injurious behavior 10% Cupped ear 10% Febrile seizures 10% Esotropia 10% Open mouth 10% Prominent nose 10% Small hand 10% Broad forehead 10% Microtia 10% Ataxia 10% Short attention span 10% Female pseudohermaphroditism 10% Dimple chin 10% Advanced eruption of teeth 10% Widow's peak 10% Abnormality of the helix 10% Broad palm 10% Ectopic kidney 10% Preauricular pit 10% Oral cleft 10% Omphalocele 10% Short chin 10% Abnormality of lower lip 10% Round face 10% Lower limb hypertonia 10% Narrow palpebral fissure 10% Thoracic scoliosis 10% Megalencephaly 10% Underdeveloped supraorbital ridges 10% Oligodontia 10% Decreased body weight 10% Syndactyly 10% Inguinal hernia 10% Cleft palate 10% Cerebral white matter hypoplasia 10% Tethered cord 10% Constipation 10% Chordee 10% Delayed CNS myelination 10% Syringomyelia 10% Abnormal vertebral morphology 10% Exotropia 10% Oculomotor apraxia 10% Hypoplastic toenails 10% Joint hypermobility 10% Blue sclerae 10% Synophrys 10% Tetralogy of Fallot 10% Thin vermilion border 10% Cutis laxa 10% Dilated cardiomyopathy 10% Optic nerve hypoplasia 10% Biparietal narrowing 10% Proximal placement of thumb 10% Pointed chin 10% Mitral regurgitation 10% Preauricular skin tag 10% Thick vermilion border 10% Intellectual disability, moderate 10% Hip dysplasia 10% Triangular face 10% Thrombocytopenia 10% Single median maxillary incisor 10% Dysphagia 10% Kyphosis 10% Nystagmus 10% Aplasia of the middle phalanx of the hand 10% Narrow naris 10% Oxycephaly 10% Preaxial polydactyly 10% Cutaneous finger syndactyly 10% Transposition of the great arteries 10% Postaxial polydactyly 10% Increased mean corpuscular volume 10% Periventricular gray matter heterotopia 10% Everted lower lip vermilion 10% Genu varum 10% Prominent nasal bridge 10% Arrhythmia 10% Proptosis 10% Short 2nd toe 10% Lop ear 10% Hypoplasia of teeth 10% Aortic dilatation 10% Ectopia lentis 10% Aortic regurgitation 10% Chorioretinal coloboma 10% Aplasia/Hypoplasia of the corpus callosum 10% Colpocephaly 10% Abnormality of the palate 10% Dental crowding 10% Convex nasal ridge 10% Thick lower lip vermilion 10% Hip dislocation 10% Iris coloboma 10% Dolichocephaly 10% Joint hyperflexibility 10% Coarse facial features 10% Microphthalmia 10% Renal insufficiency

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Frontal bossing and Round face Diseases and genetic alterations