Frontal bossing, and Intellectual disability, mild

Diseases related with Frontal bossing and Intellectual disability, mild

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


Top matches:

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 JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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Other less relevant matches:

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

High match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match 17Q23.1Q23.2 MICRODELETION SYNDROME


17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

High match GREIG CEPHALOPOLYSYNDACTYLY SYNDROME


Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Intellectual disability, mild

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Frontal bossing and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Scoliosis Prominent forehead Seizures Wide nasal bridge Intrauterine growth retardation Hydrocephalus Depressed nasal bridge Strabismus Abnormal facial shape Inguinal hernia Delayed speech and language development Muscular hypotonia Low-set ears Generalized hypotonia

Rare Symptoms - Less than 30% cases


Hepatomegaly Microcephaly Hepatosplenomegaly Microphthalmia Agenesis of corpus callosum Telecanthus Intellectual disability, moderate Bifid nose Growth delay Umbilical hernia Hirsutism Expressive language delay Failure to thrive Hoarse voice Talipes equinovarus Coarse facial features Behavioral abnormality Hypospadias Hyperactivity Gastroesophageal reflux Attention deficit hyperactivity disorder Hip dislocation Cognitive impairment Widely spaced teeth Protuberant abdomen Epicanthus Atrial septal defect Postnatal growth retardation Long face Large for gestational age Pes planus High palate Arachnodactyly Pectus carinatum Mandibular prognathia Protruding ear Pectus excavatum Tall stature Polydactyly Postaxial polydactyly Kyphosis Nystagmus Restricted chest movement Ridged cranial sutures 3-4 finger syndactyly Abnormality of calvarial morphology Abnormality of nasopharyngeal adenoids Abnormality of the Eustachian tube Incisional hernia Metopic synostosis Camptodactyly of toe Abnormality of muscle fibers Hearing impairment Hypertension Hyperreflexia Malar flattening Patent ductus arteriosus Clinodactyly of the 5th finger Narrow mouth Dyspnea Aggressive behavior Cutaneous syndactyly of toes Abnormal cardiac septum morphology Recurrent upper and lower respiratory tract infections Hyperglycemia Tonsillitis Abnormal heart valve morphology Urinary incontinence Prominent nose Abnormality of the skin Otitis media Abnormality of the cardiovascular system Osteoarthritis Thickened skin Duplication of the distal phalanx of hand Prominent supraorbital ridges Multiple joint contractures Bowel incontinence Short finger Rhinitis Dermatan sulfate excretion in urine Papilledema Abnormality of the skull Clubbing of fingers Thoracolumbar kyphosis Wrist flexion contracture Mucopolysacchariduria Flared nostrils Thenar muscle atrophy Obstructive lung disease Heparan sulfate excretion in urine Functional motor deficit Abnormality of mucopolysaccharide metabolism Retinopathy Medulloblastoma Small for gestational age Congenital diaphragmatic hernia Syndactyly Hernia Scaphocephaly Abnormal heart morphology High forehead Camptodactyly Craniosynostosis Finger syndactyly Toe syndactyly Confusion Postural instability Postaxial hand polydactyly Cutaneous finger syndactyly Downslanted palpebral fissures Broad thumb Joint contracture of the hand Accelerated skeletal maturation Abnormality of digit Plagiocephaly Partial agenesis of the corpus callosum Cutaneous syndactyly Preaxial polydactyly Delayed cranial suture closure Broad hallux Preaxial hand polydactyly Hand polydactyly Foot polydactyly Chalazion Bulbous nose Bilateral single transverse palmar creases Trigonocephaly Preaxial foot polydactyly Broad hallux phalanx Highly arched eyebrow High anterior hairline Limitation of joint mobility Esotropia Pulmonary arterial hypertension Abnormality of finger Postaxial foot polydactyly Long eyelashes Abnormality of epiphysis morphology Sandal gap Coxa magna Sacral dimple Bicuspid aortic valve Congenital contracture Chronic otitis media Long fingers Slender finger Shawl scrotum Blepharitis Mild global developmental delay Patellar hypoplasia Long toe Shallow acetabular fossae Retinopathy of prematurity Moderate global developmental delay High, narrow palate Full cheeks Micrognathia Brachycephaly Underdeveloped nasal alae Oligohydramnios Fine hair Encephalocele Scrotal hypoplasia Coronal craniosynostosis Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Abnormality of the skeletal system Upslanted palpebral fissure Short nose Cerebellar hypoplasia Hyperkeratosis Wide mouth Short philtrum Platyspondyly Short palm Short foot Depressed nasal ridge Rhizomelia Thin ribs Hypoplastic iliac wing Hypogonadism Alopecia 11 pairs of ribs Molar tooth sign on MRI Macrotia Triangular face Pointed chin Cupped ear Ataxia Dysarthria Polymicrogyria Abnormal cerebellum morphology Apraxia Cerebellar vermis hypoplasia Oculomotor apraxia Elongated superior cerebellar peduncle Abnormality of the dentition Intellectual disability, severe Prominent nasal bridge Narrow chest Hypoplasia of the maxilla Narrow face Growth abnormality Nasal speech Abnormality of the sternum Abnormality of the musculature Long foot Slender build Anteverted nares Decreased skull ossification Metaphyseal chondrodysplasia Conductive hearing impairment Hypoplastic nipples Smooth philtrum Joint hypermobility Macroglossia Memory impairment Low posterior hairline Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Episodic abdominal pain Developmental regression Dysostosis multiplex Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Sensorineural hearing impairment Gait disturbance Short neck Congestive heart failure Synophrys Elevated hepatic transaminase Severe platyspondyly Autistic behavior Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Cataract Spasticity Hypoplasia of the corpus callosum Hypertonia Glaucoma Autism Anxiety Arthrogryposis multiplex congenita Thin upper lip vermilion Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Pain Splenomegaly Long philtrum Abnormality of metabolism/homeostasis Abdominal pain 1-3 toe syndactyly



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