Frontal bossing, and Protruding ear

Diseases related with Frontal bossing and Protruding ear

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


Top matches:

High match THREE M SYNDROME 2; 3M2


THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

High match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Mendelian

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

Learn more

Other less relevant matches:

High match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

High match CRANIOECTODERMAL DYSPLASIA 4; CED4


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

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 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

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Protruding ear

Symptoms // Phenotype % cases
Triangular face Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Frontal bossing and Protruding ear. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypertelorism Pointed chin Global developmental delay Long philtrum Malar flattening Anteverted nares Delayed speech and language development Scoliosis Joint hypermobility Abnormal facial shape Hip dysplasia Abnormality of the skeletal system Cutis laxa Growth delay Short stature Muscular hypotonia

Rare Symptoms - Less than 30% cases


Low-set ears Hyperlordosis Kyphosis Autism Mitral regurgitation Blue sclerae Osteopenia Craniosynostosis Postnatal growth retardation Autistic behavior Smooth philtrum Broad forehead Optic nerve hypoplasia Hip dislocation Adducted thumb Telecanthus Ventriculomegaly Brachycephaly Short neck Micrognathia Inguinal hernia Hernia Talipes equinovarus Premature skin wrinkling Downslanted palpebral fissures Intrauterine growth retardation Dolichocephaly Colpocephaly High palate Long face Feeding difficulties Hydrocephalus Seizures Slender long bone Failure to thrive Cryptorchidism Pectus excavatum Microcephaly Thick vermilion border Strabismus Dimple chin Anterior plagiocephaly Aortic regurgitation Spontaneous abortion Lambdoidal craniosynostosis Unilateral renal agenesis Craniofacial dysostosis Ectopic posterior pituitary Congenital cataract Wormian bones Thin skin Oligohydramnios Prominent scalp veins Round ear Arnold-Chiari type I malformation Corneal opacity Diminished ability to concentrate External ear malformation Pansynostosis Posterior plagiocephaly Cataract Stomatocytosis Upslanted palpebral fissure Brisk reflexes Bulbous nose Single median maxillary incisor Periventricular gray matter heterotopia Epicanthus Agenesis of corpus callosum Osteoporosis Mandibular prognathia Gastroesophageal reflux Deeply set eye Joint laxity Recurrent fractures Abnormal hair pattern Hypoplasia of the maxilla Hypotelorism Bowing of the long bones Large fontanelles Congenital hip dislocation Growth abnormality Redundant skin Prominent superficial veins Narrow nasal ridge Increased mean corpuscular volume Biparietal narrowing Delayed cranial suture closure Dysphagia Reduced subcutaneous adipose tissue Spinal canal stenosis Calcaneovalgus deformity Dermal translucency Small foramen magnum Hearing impairment Nystagmus Visual impairment Myopia Ventricular septal defect Proximal placement of thumb Hypoplasia of the corpus callosum Thrombocytopenia High forehead Intellectual disability, moderate Wide mouth Dilated cardiomyopathy Astigmatism Highly arched eyebrow Preauricular skin tag Chronic otitis media Flat occiput Joint dislocation Increased intracranial pressure Stage 5 chronic kidney disease Hypertension Brachydactyly Abnormality of the dentition Renal insufficiency Pneumonia Rod-cone dystrophy Hypermetropia Narrow chest Thin vermilion border Frontal upsweep of hair Short distal phalanx of finger Nephropathy Full cheeks Asthma Ectodermal dysplasia Limb undergrowth Hepatic fibrosis Bone marrow hypocellularity Underdeveloped superior crus of antihelix Large forehead Cone/cone-rod dystrophy Clinodactyly Scapular winging Prominent nasal tip Prominent calcaneus Intellectual disability, mild Macrotia Pes planus Tall stature Cupped ear Small for gestational age Anteriorly placed anus Short thorax Increased vertebral height Abnormal heart morphology Constipation Hyperactivity Neonatal hypotonia Abnormality of the pinna Relative macrocephaly Recurrent pneumonia Chronic kidney disease Plagiocephaly Depressed nasal bridge Delayed gross motor development Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Spasticity Hypertonia Mitral valve prolapse Short nose Proptosis Retrognathia Blepharophimosis Facial asymmetry Downturned corners of mouth Small hand Microretrognathia Dental crowding Generalized muscle weakness Nephronophthisis Motor delay Cutaneous finger syndactyly Elevated serum creatinine Sagittal craniosynostosis Broad distal phalanx of finger Pes valgus Broad phalanx of the toes Muscle weakness Pain Myopathy Bruising susceptibility Cerebral atrophy Narrow mouth Arthralgia Myalgia Camptodactyly Scarring Talipes Arachnodactyly Abnormal glycosylation



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more