Frontal bossing, and Intellectual disability, moderate

Diseases related with Frontal bossing and Intellectual disability, moderate

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

Top matches:

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA 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

Other less relevant matches:

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

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA 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

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Depressed nasal bridge Autism Failure to thrive Short stature Macrocephaly Abnormal facial shape Generalized hypotonia Scoliosis Hyperactivity Autistic behavior Attention deficit hyperactivity disorder Delayed speech and language development Macrotia Hypertelorism Micrognathia Nystagmus Hypogonadism Growth delay

Rare Symptoms - Less than 30% cases

Cataract Spasticity Hydrocephalus Talipes equinovarus Triangular face Hypoplasia of the corpus callosum Scrotal hypoplasia Microcephaly Arthrogryposis multiplex congenita Long face Behavioral abnormality Anxiety Microphthalmia Hip dysplasia Long philtrum Schizophrenia Kyphosis Ventriculomegaly Motor delay Epicanthus Intellectual disability, severe High palate Hearing impairment Neonatal hypotonia Agenesis of corpus callosum Upslanted palpebral fissure Intellectual disability, mild Nephrolithiasis Malar flattening Abnormality of the dentition Brachydactyly Feeding difficulties Low-set ears Deeply set eye Cystinuria Underdeveloped nasal alae Nasal speech Hypocalcemia Mandibular prognathia Ventricular septal defect Long eyelashes Decreased fetal movement Lactic acidosis Intrauterine growth retardation Anteverted nares High hypermetropia Foot polydactyly Cerebellar vermis hypoplasia Iris coloboma Transposition of the great arteries Focal-onset seizure Short foot Sleep disturbance Broad thumb Broad hallux Hand polydactyly Hypotelorism Vesicoureteral reflux Coarctation of aorta Bulbous nose Intention tremor Abnormal cardiac septum morphology Sensorineural hearing impairment Broad hallux phalanx Wide nasal bridge Depressivity Patent ductus arteriosus Inguinal hernia Clinodactyly of the 5th finger Hydronephrosis Aggressive behavior Joint laxity Disorganization of the anterior cerebellar vermis Toe syndactyly Prominent supraorbital ridges Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Enlarged cisterna magna Poor eye contact Long nose External genital hypoplasia Joint hyperflexibility Focal impaired awareness seizure Joint hypermobility Truncus arteriosus Wormian bones Interrupted aortic arch Delayed eruption of primary teeth Abnormality of the clavicle Hypoplastic scapulae Hypoplastic iliac wing Osteolytic defects of the phalanges of the hand Spondylolisthesis Short middle phalanx of the 5th finger Aplastic clavicle Cervical ribs Delayed eruption of permanent teeth Parietal foramina Absent frontal sinuses Syringomyelia Parietal bossing Hypoplastic frontal sinuses Moderately short stature Spondylolysis Large foramen magnum Short middle phalanx of the 2nd finger Absent paranasal sinuses Delayed pubic bone ossification Wide pubic symphysis Persistent open anterior fontanelle Long second metacarpal Cone-shaped epiphyses of the phalanges of the hand Short clavicles Ankyloglossia Otitis media Cleft palate Abnormality of the skeletal system Respiratory distress Midface retrusion Skeletal dysplasia Pes planus Narrow chest Genu valgum High, narrow palate Delayed eruption of teeth Dental malocclusion Recurrent otitis media Increased number of teeth Hypoplasia of dental enamel Large fontanelles Increased bone mineral density Short ribs Abnormal cerebellum morphology Coxa vara Increased susceptibility to fractures Cone-shaped epiphysis Neonatal respiratory distress Short femoral neck Thickened calvaria Prominent nose Wide mouth Dysmetria Hip dislocation Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Atrial septal defect Hypertonia Hypospadias Glaucoma Gastroesophageal reflux Specific learning disability Coronal craniosynostosis Tetralogy of Fallot Hallucinations Relative macrocephaly Constrictive median neuropathy Muscle weakness Ptosis Fatigue Areflexia Posteriorly rotated ears Calvarial skull defect Encephalocele Retrognathia Retinal degeneration Hypoglycemia Low-set, posteriorly rotated ears Mitochondrial respiratory chain defects Downslanted palpebral fissures Short neck Blindness Rod-cone dystrophy Craniosynostosis Nyctalopia Short distal phalanx of finger Fine hair Renal cyst Short metacarpal Small nail Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Alopecia Brachycephaly Telecanthus Oligohydramnios Acidosis Facial palsy Poor speech Ataxia Optic nerve hypoplasia Chronic otitis media Proximal placement of thumb Biparietal narrowing Abnormal hair pattern Increased mean corpuscular volume Colpocephaly Single median maxillary incisor Periventricular gray matter heterotopia Cognitive impairment Preauricular skin tag Tremor Dilatation Cerebellar hypoplasia Prominent forehead Cerebral cortical atrophy Micropenis Gait ataxia Thin upper lip vermilion Short philtrum Neurological speech impairment Pointed chin Mitral regurgitation Feeding difficulties in infancy Neonatal hypoglycemia Dolichocephaly Growth hormone deficiency Hypergonadotropic hypogonadism Increased body weight Severe muscular hypotonia Tented upper lip vermilion Abnormality of mitochondrial metabolism Polyphagia Central hypotonia Severe failure to thrive Highly arched eyebrow Visual impairment Myopia Dysphagia Thrombocytopenia High forehead Protruding ear Dilated cardiomyopathy Smooth philtrum Astigmatism Thick vermilion border Abnormal facility in opposing the shoulders


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Anorexia, related diseases and genetic alterations Edema and Dilated cardiomyopathy, related diseases and genetic alterations Strabismus and Ischemic stroke, related diseases and genetic alterations Short stature and Hepatic failure, related diseases and genetic alterations Global developmental delay and Glomerulonephritis, related diseases and genetic alterations Ptosis and Renal cyst, related diseases and genetic alterations