Frontal bossing, and Neonatal hypotonia

Diseases related with Frontal bossing and Neonatal hypotonia

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

Top matches:

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

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

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Other less relevant matches:

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

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

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Neonatal hypotonia

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

High palate Wide mouth Epicanthus Macrocephaly Strabismus Triangular face Wide nasal bridge Autism Feeding difficulties Hypoplasia of the corpus callosum Patent foramen ovale Intellectual disability, severe Abnormal heart morphology Hyperactivity Pes planus Ataxia Smooth philtrum Neurological speech impairment Poor speech Long face Abnormal cerebellum morphology Depressed nasal bridge Nystagmus Low-set ears Growth delay Hearing impairment Microcephaly Delayed speech and language development Short stature External genital hypoplasia Poor eye contact Attention deficit hyperactivity disorder Intellectual disability, moderate Abnormality of the pinna Scoliosis Upslanted palpebral fissure Patent ductus arteriosus Cognitive impairment Motor delay Downslanted palpebral fissures Gastroesophageal reflux Ventriculomegaly Dolichocephaly Myopia Relative macrocephaly Mitral valve prolapse Mandibular prognathia Macrotia Joint laxity

Rare Symptoms - Less than 30% cases

Growth hormone deficiency Short palpebral fissure Inverted nipples Renal dysplasia Ventricular septal defect Malar flattening Polydactyly Aggressive behavior Hydrocephalus Facial asymmetry Atrial septal defect Autistic behavior Low-set, posteriorly rotated ears Anxiety Abnormality of cardiovascular system morphology Intellectual disability, mild Cleft palate Micrognathia Polyphagia Thick vermilion border Feeding difficulties in infancy Abnormality of nervous system morphology Retinopathy EEG abnormality Blindness Dysphagia Sensorineural hearing impairment Speech apraxia Nasal speech Dental crowding Renal cyst Abnormal electroretinogram Prominent forehead Protruding ear Respiratory insufficiency Tremor Spasticity Prominent nose Cryptorchidism Dilatation Agenesis of corpus callosum Thin upper lip vermilion Infra-orbital crease Intention tremor Hypermetropia Cerebellar hypoplasia Short philtrum Retrognathia Coarse facial features Cerebral cortical atrophy Large forehead Anteriorly placed anus Anteverted nares Abnormality of the cardiovascular system Bifid uvula Dental malocclusion Delayed myelination Hypoplasia of the maxilla Small for gestational age Stereotypy Trigonocephaly Hypercholesterolemia Sleep apnea Infantile muscular hypotonia Failure to thrive in infancy Language impairment Oral-pharyngeal dysphagia Abnormality of dental morphology Open bite Dysphasia High hypermetropia Bipolar affective disorder Echolalia Abnormality of chromosome segregation Abnormal renal morphology Hypocholesterolemia Broad forehead Underdeveloped superior crus of antihelix Abnormality of the kidney Abnormality of ocular smooth pursuit Acute kidney injury Congenital blindness Impaired smooth pursuit Optic nerve coloboma Central apnea Agenesis of cerebellar vermis Abnormal renal physiology Abnormal corpus callosum morphology Rotary nystagmus Accessory oral frenulum Abnormal saccadic eye movements Metopic synostosis Hypoplastic male external genitalia Apnea Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Thickened superior cerebellar peduncle Enlarged fossa interpeduncularis Noncommunicating hydrocephalus Dysarthria Abnormality of the dentition Frontal upsweep of hair Hypothyroidism Abnormality of the pharynx Talipes Poor fine motor coordination Long philtrum Abnormal head movements Periventricular gray matter heterotopia Oppositional defiant disorder Encopresis Finger joint hypermobility Macroorchidism, postpubertal Increased size of the mandible Folate-dependent fragile site at Xq28 Congenital macroorchidism Severe temper tantrums Intrauterine growth retardation Abnormality of the skeletal system Respiratory distress Short nose Clinodactyly of the 5th finger Irregular dentition Abnormality of the eye Camptodactyly of finger Small hand Full cheeks Interphalangeal joint contracture of finger Plagiocephaly Abnormality of vision Redundant skin Rocker bottom foot Tricuspid regurgitation Mild short stature Thoracic hypoplasia Shallow orbits Ventricular extrasystoles Shyness Mood swings Prominent nasal tip Otitis media Expressive language delay Central sleep apnea Receptive language delay Molar tooth sign on MRI Midface retrusion Absent speech Obesity Depressivity Pectus excavatum High forehead Constipation Joint hypermobility Postural instability Round face Overgrowth Ascending tubular aorta aneurysm Heterotopia Hyperpigmentation of the skin Sinusitis Narrow face Hyperkinesis Premature ovarian insufficiency Chronic otitis media Self-injurious behavior Large hands Abnormality of neuronal migration Broad palm Macroorchidism Enuresis Hyperextensibility of the finger joints Nephronophthisis Esotropia Hypoplasia of the brainstem Cerebellar vermis hypoplasia Focal impaired awareness seizure Prominent supraorbital ridges Hallux valgus Thickened calvaria Ankylosis Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Scrotal hypoplasia Perseveration Increased head circumference Deviated nasal septum Hypotelorism Widely spaced teeth Focal-onset seizure Hyperreflexia Hepatomegaly Optic atrophy Gait disturbance Dysmetria Hypertonia Dystonia Abnormality of metabolism/homeostasis Babinski sign Myoclonus Brachycephaly Respiratory failure Poor suck Clonus Deeply set eye Oval face Telecanthus Hydronephrosis Coarctation of aorta Pointed chin Narrow palate Deep philtrum Flat occiput Hypoplastic left heart Delayed ability to walk Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Narrow philtrum Long nose Talipes equinovarus Disorganization of the anterior cerebellar vermis Kyphosis Narrow mouth Retrocerebellar cyst Kyphoscoliosis Abnormality of the philtrum Microphallus Muscular hypotonia of the trunk Abnormal cardiac septum morphology Delayed puberty Enlarged cisterna magna High, narrow palate Open mouth Osteopenia Elevated hepatic transaminase Chorioretinal coloboma Visual impairment Decreased fetal movement Nephrolithiasis Long eyelashes Hypergonadotropic hypogonadism Increased body weight Hypocalcemia Severe muscular hypotonia Tented upper lip vermilion Abnormality of mitochondrial metabolism Central hypotonia Neonatal hypoglycemia Severe failure to thrive Cystinuria Renal insufficiency Arthrogryposis multiplex congenita Microphthalmia Camptodactyly Craniosynostosis Coloboma Abnormality of the foot Postaxial polydactyly Retinal dystrophy Dandy-Walker malformation Postaxial hand polydactyly Apraxia Encephalocele Hepatic fibrosis Oculomotor apraxia Lactic acidosis Facial palsy Developmental regression Intellectual disability, progressive Irritability Severe global developmental delay Abnormality of the cerebral white matter Retinal degeneration Hypodontia Tetraplegia Brain atrophy Peripheral demyelination Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Spastic tetraplegia Leukodystrophy Gait ataxia Acidosis Hand polydactyly Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Tapetoretinal degeneration Micropenis No social interaction Diffuse hepatic steatosis Muscle weakness Ptosis Fatigue Areflexia Posteriorly rotated ears Hypogonadism Secundum atrial septal defect


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