Frontal bossing, and Broad forehead

Diseases related with Frontal bossing and Broad forehead

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


Top matches:

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

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

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Other less relevant matches:

High match 5P13 MICRODUPLICATION SYNDROME


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

High match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

High match APERT SYNDROME


Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

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 DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

High match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Frontal bossing and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Frontal bossing and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Agenesis of corpus callosum Seizures Depressed nasal bridge Strabismus Epicanthus Mandibular prognathia Low-set ears Generalized hypotonia Brachycephaly Short nose Malar flattening Micrognathia Prominent forehead Autistic behavior Hydrocephalus Proptosis Large fontanelles Autism Hypotelorism Abnormal facial shape Microcephaly Protruding ear Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Sleep disturbance Cleft palate Obsessive-compulsive behavior Ventriculomegaly Highly arched eyebrow Smooth philtrum Long nose Intrauterine growth retardation Sensorineural hearing impairment Osteopenia Cataract High palate Wide nasal bridge Upslanted palpebral fissure Hip dislocation Hearing impairment Premature skin wrinkling Bulbous nose Cutis laxa Wormian bones Hernia Triangular face Growth delay Muscular hypotonia Posteriorly rotated ears Postnatal growth retardation Omphalocele Iris coloboma Partial agenesis of the corpus callosum Osteoporosis Brachydactyly Postnatal macrocephaly Deeply set eye Gastroesophageal reflux Hypoplasia of the maxilla Delayed eruption of teeth Hyperactivity Recurrent fractures Short stature Feeding difficulties Failure to thrive Anteverted nares Proteinuria Telecanthus Umbilical hernia Coloboma Retinal detachment Abnormal glycosylation Pulmonary hypoplasia Retinal dystrophy Myopia Broad nasal tip Narrow nasal ridge Colpocephaly Intestinal malrotation Prominent superficial veins Ventricular septal defect Median cleft lip and palate Microphthalmia Absent nasal septal cartilage Panhypopituitarism Single median maxillary incisor Midline defect of the nose Parietal bossing Broad face Semilobar holoprosencephaly Bilateral cleft lip and palate Depressed nasal tip Alobar holoprosencephaly Hypoplasia of the premaxilla Bilateral cleft lip Macrotia Median cleft lip Flat occiput Holoprosencephaly Dental malocclusion Prominent nose Oral cleft Cleft lip Thin upper lip vermilion Bilateral microphthalmos Flat nasal alae Fusion of the left and right thalami Bicornuate uterus Progressive visual loss Hearing abnormality Hemivertebrae Abnormality of dental enamel Coxa vara Spina bifida occulta Sleep apnea Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Chronic otitis media Open bite Increased number of teeth Short clavicles Sprengel anomaly Glossoptosis Hypoplasia of the zygomatic bone Abnormality of epiphysis morphology Down-sloping shoulders Hypoplastic scapulae Decreased skull ossification Dystrophic toenail Dystrophic fingernails Abnormality of the thumb Dimple chin Abnormal sacrum morphology Cervical C2/C3 vertebral fusion Rib segmentation abnormalities Hypoplastic inferior ilia Shoulder muscle hypoplasia Short face Cervical segmentation defect Sinusitis Abnormality of the ribs Congenital diaphragmatic hernia Short sternum High myopia Heterotopia Wide anterior fontanel Abnormal vertebral morphology Aminoaciduria Aplasia/Hypoplasia of the corpus callosum Prominent supraorbital ridges Epiphyseal dysplasia Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Abnormality of the uterus Growth abnormality Proximal tubulopathy Sloping forehead Diaphragmatic eventration Macular hypoplasia Infra-orbital crease Low-molecular-weight proteinuria Non-acidotic proximal tubulopathy Abnormality of the dentition Clinodactyly of the 5th finger Recurrent respiratory infections Skeletal dysplasia Carious teeth Narrow chest Genu valgum High, narrow palate Tapered finger Redundant skin Finger syndactyly Congenital hip dislocation Schizophrenia Hypoplasia of the corpus callosum Behavioral abnormality Cerebellar hypoplasia Anxiety Aggressive behavior Thick eyebrow Short distal phalanx of finger Thick vermilion border Cerebellar vermis hypoplasia Gingival overgrowth Widely spaced teeth Sparse eyebrow Increased head circumference Neurodevelopmental delay Facial hypotonia Craniosynostosis Sparse hair Blepharophimosis Short philtrum Small for gestational age Astigmatism Arachnodactyly Narrow forehead Low posterior hairline Delayed speech and language development Severe combined immunodeficiency Stereotypy Neoplasm Cognitive impairment Tremor Hyperlordosis Microtia Neurological speech impairment Poor speech Long face Generalized myoclonic seizures Delayed myelination Focal-onset seizure Delayed gross motor development Fever Biparietal narrowing Long philtrum Immunodeficiency Recurrent infections Obesity Pneumonia Hepatosplenomegaly Attention deficit hyperactivity disorder Lymphadenopathy Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Short palpebral fissure Exotropia Bowing of the long bones Ovarian neoplasm Facial asymmetry Micromelia Flat face Bifid uvula Convex nasal ridge Choanal atresia Broad thumb Narrow palate Arnold-Chiari malformation Vertebral segmentation defect Absent septum pellucidum Aplasia/Hypoplasia of the thumb Feeding difficulties in infancy Esophageal atresia Corneal erosion Ectopic anus Cloverleaf skull Brachyturricephaly Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Acrobrachycephaly Abnormality of the skeletal system Joint laxity Joint hypermobility Blue sclerae Toe syndactyly Conductive hearing impairment Large hands Aortic regurgitation Long fingers Overweight Turricephaly Long foot Talipes equinovarus Inguinal hernia Corneal opacity Congenital cataract Oligohydramnios Thin skin Spontaneous abortion Adducted thumb Abnormality of cardiovascular system morphology Unilateral renal agenesis Brisk reflexes Delayed cranial suture closure Reduced subcutaneous adipose tissue Spinal canal stenosis Calcaneovalgus deformity Dermal translucency Small foramen magnum Visual impairment Hypertension Optic atrophy Respiratory insufficiency Neck muscle hypoplasia



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