Frontal bossing, and Microtia

Diseases related with Frontal bossing and Microtia

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

High match AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

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Other less relevant matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

High match MEIER-GORLIN SYNDROME 6; MGORS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match PELVISCAPULAR DYSPLASIA


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

High match TREACHER-COLLINS SYNDROME


Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Strabismus Microphthalmia Cryptorchidism Macrocephaly Respiratory insufficiency Seizures Posteriorly rotated ears Hypertelorism Short stature Hydrocephalus Delayed speech and language development Ventriculomegaly Brachycephaly Short nose Gastroesophageal reflux Abnormal facial shape Encephalocele Retrognathia Cataract Deeply set eye Short neck Growth delay Motor delay Hypoplasia of penis Failure to thrive Feeding difficulties

Rare Symptoms - Less than 30% cases


Areflexia Heterotopia Remnants of the hyaloid vascular system Agyria Type II lissencephaly Peters anomaly Retinal dysplasia Hypoplasia of the brainstem Congenital muscular dystrophy Optic nerve hypoplasia Lissencephaly Clinodactyly of the 5th finger Pachygyria Elevated serum creatine phosphokinase Intellectual disability, profound Visual impairment Dandy-Walker malformation Retinal detachment Polymicrogyria Muscular dystrophy Malar flattening Glaucoma Cerebellar hypoplasia Wide mouth Myopia High palate Downslanted palpebral fissures Muscular hypotonia Microcephaly Low anterior hairline Stenosis of the external auditory canal Sandal gap Hip dysplasia Conductive hearing impairment Severe short stature Midface retrusion Hydronephrosis Intrauterine growth retardation Intellectual disability, severe Hearing impairment Protruding ear Cleft upper lip Hypoplastic pubic bone Iris coloboma Low posterior hairline Oral cleft Anal atresia Abnormality of the pinna Cleft lip Microcornea Abnormality of the skeletal system Hypoplasia of the corpus callosum Facial asymmetry Narrow chest Proptosis Small for gestational age Autistic behavior Postnatal growth retardation Delayed skeletal maturation Febrile seizures Large fontanelles Dilatation Hyperactivity Hyperlordosis Broad forehead Anteverted nares Depressed nasal bridge Focal-onset seizure Autism Delayed myelination Wide anterior fontanel Short ribs Bell-shaped thorax Hypoplastic ischia Stereotypy Sleep disturbance Prominent nose Thyroid hypoplasia Esotropia Epileptic encephalopathy Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Open mouth Hypoplasia of the thymus Dental crowding Hypoplastic male external genitalia Chorioretinal dysplasia Highly arched eyebrow Rectovaginal fistula Generalized hirsutism Finger clinodactyly Short chin Absence seizures Eyelid coloboma Abnormal lactate dehydrogenase activity Widely spaced teeth Infantile muscular hypotonia Tented upper lip vermilion Focal impaired awareness seizure Language impairment Hypoplasia of the zygomatic bone Short foot Abnormality of the adrenal glands Abnormality of the middle ear Fever Encephalopathy Clinodactyly Constipation Gait ataxia Coarse facial features Thin upper lip vermilion EEG abnormality Aggressive behavior Feeding difficulties in infancy Behavioral abnormality Vomiting Hypermetropia Branchial fistula Multiple enchondromatosis Synophrys Narrow internal auditory canal Astigmatism Abnormality of bone mineral density Ptosis Self-injurious behavior Ataxia Abnormal aldolase level Thick eyebrow Short palm Downturned corners of mouth Small hand Everted lower lip vermilion Bulbous nose Abnormality of lower lip Cupped ear Facial hirsutism Humeroradial synostosis Abnormality of the vertebral column Dysphasia Long clavicles Ambiguous genitalia, female Severe hydrocephalus Open bite Tracheoesophageal fistula Abnormality of dental morphology Reduced number of teeth Scrotal hypoplasia Abnormality of dental enamel 4-5 toe syndactyly Abnormality of the hair Alveolar ridge overgrowth Hydranencephaly Patent ductus arteriosus Anterior rounding of vertebral bodies Abnormality of the joint spaces of the elbow Wide nasal bridge Prominent protruding coccyx Abnormality of the dentition Abnormality of cardiovascular system morphology Abnormality of the skull base Microtia, first degree Narrow mouth Skeletal dysplasia Hypoplasia of the maxilla Choanal atresia Preauricular skin tag Mesomelic leg shortening Wrist flexion contracture Fibular aplasia Polyphagia Short palpebral fissure Short attention span Macrodontia Hemifacial hypoplasia Paroxysmal bursts of laughter Absent proximal finger flexion creases Brachydactyly Talipes equinovarus Camptodactyly Blepharospasm Blepharophimosis Hip dislocation Absent eyelashes Glossoptosis Toe syndactyly Rhizomelia Ambiguous genitalia, male Dislocated radial head Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Hypoplastic scapulae Microglossia Facial cleft Joint contracture of the hand Mesomelia 2-3 toe syndactyly Redundant skin Narrow palpebral fissure Congenital hip dislocation Elbow flexion contracture Macrogyria Flexion contracture Metatarsus valgus Preaxial polydactyly Dysplastic sacrum Iliac crest serration Facial palsy Decreased fetal movement Adducted thumb Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Corpus callosum atrophy Polydactyly Micropenis Pulmonary hypoplasia Postaxial polydactyly Tetralogy of Fallot Natal tooth Squared iliac bones Fibular hypoplasia Short tibia Thoracic dysplasia Complete atrioventricular canal defect Lateral clavicle hook Horizontal ribs Uterus didelphys Long thorax Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Large posterior fontanelle Severe platyspondyly Metaphyseal cupping Narrow sacroiliac notch Congestive heart failure Epicanthus Immunodeficiency Absent speech Abnormality of the foot Tall stature Cognitive impairment Tremor Neurological speech impairment Poor speech Long face Generalized myoclonic seizures Delayed gross motor development Postnatal macrocephaly Hypertension Prominent forehead Spondylometaphyseal dysplasia Muscular hypotonia of the trunk Platyspondyly Micromelia Wide nose Round face Limb undergrowth Cardiomegaly Pulmonary arterial hypertension Wormian bones Tachypnea Short long bone Deep philtrum Hypokinesia Delayed epiphyseal ossification Absent nasal bridge Esophageal diverticulum Abnormality of the cerebellar vermis Submucous cleft hard palate Congenital cataract Retinal dystrophy Bifid uvula Specific learning disability Cerebellar vermis hypoplasia Renal dysplasia Severe muscular hypotonia Atresia of the external auditory canal Congenital contracture Anophthalmia Abnormality of neuronal migration Congenital glaucoma Absent septum pellucidum Occipital encephalocele Retinal atrophy Corneal opacity Megalocornea Bilateral cleft lip Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Aqueductal stenosis Muscle fiber splitting Cerebellar dysplasia Cerebellar cyst Excessive daytime sleepiness Posterior fossa cyst Meningoencephalocele Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Abnormality of the cerebral white matter Retinopathy Hernia Emphysema Recurrent respiratory infections High forehead Umbilical hernia Respiratory tract infection Delayed puberty Thick vermilion border Single transverse palmar crease Underdeveloped nasal alae Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Laryngomalacia Short middle phalanx of finger Cortical gyral simplification Coloboma Muscle weakness Agenesis of corpus callosum Hyporeflexia Myopathy Blindness Optic atrophy Skeletal muscle atrophy Nasogastric tube feeding Tracheomalacia Tracheobronchomalacia Subglottic stenosis Bronchomalacia Entropion Patellar aplasia Hypoplastic labia majora Short face



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