Generalized hypotonia, and High forehead

Diseases related with Generalized hypotonia and High forehead

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

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Strabismus
  • Behavioral abnormality
  • High forehead


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

High match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

High match ALG11-CDG

ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

ALG11-CDG Is also known as cdg-ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation type ip|cdg syndrome type ip|carbohydrate deficient glycoprotein syndrome type ip|cdg1p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG11-CDG

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Top 5 symptoms//phenotypes associated to Generalized hypotonia and High forehead

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and High forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Sensorineural hearing impairment Feeding difficulties Abnormal facial shape

Rare Symptoms - Less than 30% cases

Anteverted nares Low-set ears Muscular hypotonia of the trunk Inverted nipples Hepatomegaly Wide nasal bridge Triangular face Behavioral abnormality Protruding ear Hearing impairment EEG abnormality Cataract Short chin Muscular hypotonia Scoliosis Hypertelorism Ptosis Autism Tapered finger Wide nose Growth delay Peripheral neuropathy Upslanted palpebral fissure Diarrhea Thick corpus callosum Hyperkeratosis Erythema Poor speech Ichthyosis Laterally extended eyebrow Drooling Cavum septum pellucidum Loss of consciousness Prominent nasal bridge Absence seizures Generalized-onset seizure Cyanosis Hip dysplasia Epileptic encephalopathy Focal-onset seizure Highly arched eyebrow Respiratory tract infection Hyporeflexia Encephalopathy Cirrhosis Cholestasis Hyperactivity Opisthotonus Narrow mouth Gastroesophageal reflux Constipation Hernia Cerebral atrophy Umbilical hernia Dystonia Hypoplasia of the corpus callosum Delayed speech and language development Spasticity Muscle weakness Thin upper lip vermilion Temperature instability Type I transferrin isoform profile Anxiety Hepatic fibrosis Autistic behavior Scaling skin Neonatal hypotonia Downslanted palpebral fissures Long philtrum Attention deficit hyperactivity disorder Hypertonia Vomiting Decreased serum ceruloplasmin Hypocupremia Intrahepatic cholestasis Congenital sensorineural hearing impairment Erythroderma Abnormal intestine morphology Retrognathia Short stature Long nose Posteriorly rotated ears Renal cyst Polymicrogyria Apnea Elevated hepatic transaminase Depressed nasal bridge Failure to thrive Neurogenic bladder Prolonged neonatal jaundice Spastic paraparesis Nephrocalcinosis Paraparesis Spastic paraplegia Jaundice Hyperreflexia Wide anterior fontanel Nystagmus Anterior plagiocephaly Turricephaly Delayed cranial suture closure Plagiocephaly Spina bifida occulta Spina bifida Low anterior hairline Dandy-Walker malformation Craniosynostosis Brachycephaly Agenesis of corpus callosum Cerebellar atrophy Ventriculomegaly Large fontanelles Decreased liver function Open mouth Dilatation Intellectual disability, profound Long face Aggressive behavior Myopathy Gait disturbance Skeletal muscle atrophy Generalized neonatal hypotonia Epiphyseal stippling Polycystic kidney dysplasia Bradycardia Flat face Feeding difficulties in infancy Areflexia Joint contracture of the 5th finger Severe muscular hypotonia Frontal upsweep of hair Disproportionate tall stature Pyloric stenosis Schizophrenia Arachnodactyly Pectus carinatum Camptodactyly Pes planus Large face Severe failure to thrive Multiple renal cysts CNS hypomyelination Infantile muscular hypotonia Lissencephaly Impulsivity


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Recurrent fractures, related diseases and genetic alterations Motor delay and Cholestasis, related diseases and genetic alterations Depressed nasal bridge and Midface retrusion, related diseases and genetic alterations Visual impairment and Hypotension, related diseases and genetic alterations Immunodeficiency and Camptodactyly of finger, related diseases and genetic alterations Strabismus and Severe global developmental delay, related diseases and genetic alterations