Frontal bossing, and Blepharophimosis

Diseases related with Frontal bossing and Blepharophimosis

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

Top matches:

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

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

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Other less relevant matches:

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

Top 5 symptoms//phenotypes associated to Frontal bossing and Blepharophimosis

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Depressed nasal bridge High palate Posteriorly rotated ears Craniosynostosis Retrognathia Short palpebral fissure Hypertelorism Microphthalmia Talipes equinovarus Prominent forehead Strabismus Anteverted nares Epicanthus Cryptorchidism Elbow dislocation Short neck Postaxial hand polydactyly Hip dislocation Hernia Severe short stature Rhizomelia Wide nasal bridge Narrow palpebral fissure Toe syndactyly Fibular hypoplasia Mesomelia Short nose Clinodactyly of the 5th finger Hearing impairment Macrocephaly Abnormality of the skeletal system Abnormal heart morphology Hydrocephalus Growth delay Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Camptodactyly Horseshoe kidney Cleft upper lip Downslanted palpebral fissures Ventricular septal defect Hypospadias Gastroesophageal reflux Polydactyly Sandal gap Syndactyly Low-set, posteriorly rotated ears Long philtrum Tibial bowing Brachydactyly Joint contracture of the hand Cutaneous finger syndactyly Short ribs Microdontia Failure to thrive Abnormality of the pinna Joint laxity Hypogonadism High forehead Clinodactyly Joint hyperflexibility Postaxial foot polydactyly Hypoplasia of the maxilla Short tibia Dislocated radial head Short chin Limb undergrowth Intrauterine growth retardation Camptodactyly of 2nd-5th fingers Foot oligodactyly Hand oligodactyly Short femur Optic atrophy Hemivertebrae Upslanted palpebral fissure Low posterior hairline Generalized hypotonia Proptosis Seizures Telecanthus Sparse hair Midface retrusion Small hand Malar flattening Small for gestational age Narrow forehead Scoliosis Plagiocephaly Abnormal facial shape Feeding difficulties Muscular hypotonia Genu valgum Thick vermilion border Hypoplasia of penis Respiratory distress Specific learning disability White eyebrow Bifid uvula White forelock Delayed skeletal maturation White eyelashes Macrodontia High, narrow palate Respiratory failure Arthrogryposis multiplex congenita Short palm Micropenis Narrow mouth Dyspnea Arrhinencephaly Feeding difficulties in infancy Joint hypermobility Talipes Microtia Pectus carinatum Venous insufficiency Intestinal pseudo-obstruction Prominent nasal bridge Camptodactyly of finger Short ear Microcephaly Microglossia Synostosis of joints Redundant neck skin Hypoplastic ilia Hypoplastic iliac wing Hypoplastic scapulae Stenosis of the external auditory canal Bell-shaped thorax Fibular aplasia 2-3 toe syndactyly Redundant skin Congenital hip dislocation Elbow flexion contracture Hypoplasia of the premaxilla Lacrimal gland hypoplasia Ambiguous genitalia, male Hydranencephaly Abnormality of the joint spaces of the elbow Microtia, first degree Anterior rounding of vertebral bodies Thick lower lip vermilion Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Mesomelic leg shortening Alveolar ridge overgrowth Wrist flexion contracture Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Long clavicles Humeroradial synostosis Abnormality of the ribs Abnormality of the thumb Thin skin Aplasia/Hypoplasia of the patella Thin vermilion border Hypopigmentation of the skin Abnormal form of the vertebral bodies Aplastic clavicle Bowing of the long bones Aganglionic megacolon Broad thumb Breast aplasia Lateral clavicle hook Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Bilateral single transverse palmar creases Hypopigmented skin patches Epispadias Hyperconvex nail Patellar aplasia Morgagni diaphragmatic hernia Flat glenoid fossa Incomplete partition of the cochlea type II Absent sternal ossification Abnormality of the patella Small anterior fontanelle Absent glenoid fossa Sensorineural hearing impairment Clitoral hypoplasia Intellectual disability, severe Mandibular aplasia Intellectual disability, moderate Finger syndactyly Birth length less than 3rd percentile Hypoplastic labia minora Anotia Breech presentation Long eyelashes Abnormality of pelvic girdle bone morphology Large earlobe Mild short stature Clitoral hypertrophy Atresia of the external auditory canal Abnormality of the lower limb White hair Abnormality of the upper limb Blue irides Genu varum Abnormality of the outer ear Microtia, third degree Coxa valga Increased body weight Abnormality of epiphysis morphology Heterochromia iridis Bilateral talipes equinovarus Abnormality of the metacarpal bones Submucous cleft hard palate Hypoplastic labia majora Narrow nose Aseptic necrosis Anosmia Shawl scrotum Short long bone Premature graying of hair Abnormal eyebrow morphology Thin ribs Tarsal synostosis Synostosis of carpal bones Disproportionate short stature Slender long bone Severe hearing impairment Emphysema Microcornea Polyhydramnios Hydronephrosis Hypoplasia of the corpus callosum Cerebellar vermis hypoplasia Vesicoureteral reflux Coloboma Autistic behavior Autism Behavioral abnormality Ventriculomegaly Broad eyebrow Dysarthria Visual impairment Long foot Turricephaly Overweight Long fingers Cerebral visual impairment Cleft lip Obsessive-compulsive behavior Abnormal renal morphology Skeletal dysplasia Abnormality of cardiovascular system morphology Atrial septal defect Fused fourth and fifth metacarpals Metacarpal synostosis Flared nostrils Oligodactyly Single transverse palmar crease Anophthalmia Deep philtrum Abnormality of the hair Abnormal vertebral morphology Split hand Abnormality of the cardiovascular system Large hands Exotropia Micromelia Increased intracranial pressure Stomatocytosis Anterior plagiocephaly Arnold-Chiari type I malformation External ear malformation Flat occiput Optic nerve hypoplasia Microretrognathia Lambdoidal craniosynostosis Downturned corners of mouth Facial asymmetry Protruding ear Hypertonia Delayed speech and language development Spasticity Dimple chin Craniofacial dysostosis Stereotypy Short philtrum Hypotelorism Sleep disturbance Bulbous nose Arachnodactyly Astigmatism Broad forehead Brachycephaly Ectopic posterior pituitary Agenesis of corpus callosum Posterior plagiocephaly Pansynostosis Diminished ability to concentrate Round ear Prominent scalp veins Umbilical hernia Flat face Deeply set eye Cholestasis Cutis laxa Sparse eyelashes Hyperbilirubinemia Hepatic fibrosis Hydrops fetalis Left ventricular hypertrophy Ectodermal dysplasia Chronic kidney disease Full cheeks Renal cyst Everted lower lip vermilion Stage 5 chronic kidney disease Smooth philtrum Narrow chest Widely spaced teeth Patent foramen ovale Proteinuria Broad philtrum Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Cholangitis Preaxial polydactyly Biliary cirrhosis High anterior hairline Polysplenia Cystic hygroma Nephronophthisis Sparse eyebrow Dolichocephaly Elevated hepatic transaminase Abnormality of the metaphysis Abnormality of femur morphology Limited elbow flexion Limited hip movement Severe short-limb dwarfism Popliteal pterygium Abnormality of the radius Increased nuchal translucency Short columella Limited knee extension Pulmonary artery stenosis Short humerus Limited elbow extension Pterygium Disproportionate short-limb short stature Hemangioma Axillary pterygium Increased fibular diameter Acidosis Abnormality of the dentition Rod-cone dystrophy Inguinal hernia Patent ductus arteriosus Pectus excavatum Renal insufficiency Splenomegaly Hepatomegaly Limited knee flexion Hypertension Bipolar affective disorder Schizophrenia Anterolateral radial head dislocation Limited knee flexion/extension Limited elbow flexion/extension Hypoplastic distal humeri True anophthalmia


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