Macrocephaly, and Neonatal hypotonia

Diseases related with Macrocephaly and Neonatal hypotonia

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

Top matches:

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

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

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Other less relevant matches:

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Neonatal hypotonia

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Cerebellar hypoplasia Tremor Hyperactivity Nystagmus Hypertelorism Hearing impairment Ataxia Long face Narrow mouth Relative macrocephaly Prominent forehead Constipation Frontal bossing Delayed speech and language development Gastroesophageal reflux Sensorineural hearing impairment Poor speech Aggressive behavior Intention tremor Scoliosis

Rare Symptoms - Less than 30% cases

Muscle weakness Poor suck Gait ataxia Cerebellar vermis hypoplasia Feeding difficulties Cerebral cortical atrophy Reduced visual acuity Elevated serum creatine phosphokinase Ventriculomegaly Dental crowding Motor delay Myopia Ankylosis Autism Cryptorchidism Short stature Intellectual disability, mild Long philtrum High palate Upslanted palpebral fissure Microcephaly Open mouth Micrognathia Low-set ears Deeply set eye Kyphoscoliosis Bilateral sensorineural hearing impairment Prominent nose Protruding ear Large forehead Frontal upsweep of hair Infantile muscular hypotonia Dysmetria Abnormal cerebellum morphology Unsteady gait Short philtrum Full cheeks Occipital encephalocele Depressed nasal bridge Wide nasal bridge Short neck Behavioral abnormality Hypoventilation Midface retrusion Retinal degeneration High myopia Encephalocele Respiratory insufficiency due to muscle weakness Microphthalmia Progressive microcephaly Hypoplasia of the brainstem Arnold-Chiari malformation Cortical cataract Polyhydramnios CNS hypomyelination Agyria Type II lissencephaly Congenital muscular dystrophy Poor head control Severe global developmental delay Agenesis of corpus callosum Muscular dystrophy Retinal coloboma Abnormally large globe Glaucoma Coloboma Lissencephaly Broad nasal tip Feeding difficulties in infancy High, narrow palate Ventricular septal defect Hypoplasia of the corpus callosum Kyphosis Malar flattening Patent ductus arteriosus Pes planus Joint laxity Muscular hypotonia of the trunk Wide mouth Abnormal cardiac septum morphology Delayed puberty Thick vermilion border Clonus Hypoplastic hippocampus Widely spaced teeth Nasal speech Patent foramen ovale Hallux valgus Thickened calvaria Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Segmental myoclonic seizures Hippocampal atrophy Intellectual disability, profound Memory impairment Pachygyria Dysarthria Downslanted palpebral fissures Anteverted nares Edema Cerebellar atrophy Autistic behavior Abnormal pyramidal sign Broad forehead Bulbous nose Wide nose Generalized myoclonic seizures Thick lower lip vermilion Short ear Depressed nasal ridge Pointed chin Brisk reflexes Palpebral edema Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Hydrocephalus Neurological speech impairment Flexion contracture Respiratory distress Camptodactyly Talipes Astigmatism Nevus Overgrowth Amblyopia Accelerated skeletal maturation Curved fingers Cleft palate Posteriorly rotated ears Abnormality of the dentition Low-set, posteriorly rotated ears Apnea Hirsutism Round face Dental malocclusion Preauricular skin tag Cupped ear Bulbar palsy Glossoptosis Upper airway obstruction Telecanthus Hypertonia Long penis Easy fatigability Pain Skeletal muscle atrophy Fatigue Myopathy Areflexia Myalgia Stroke Limb muscle weakness Muscle cramps Increased serum lactate Rhabdomyolysis Talipes equinovarus Chronic fatigue Exercise-induced myalgia Increased muscle fatiguability Exercise-induced muscle fatigue Elevated creatine kinase after exercise Failure to thrive Abnormal heart morphology Abnormality of the pinna Anteriorly placed anus Underdeveloped superior crus of antihelix Central apnea Snoring Cataract Scrotal hypoplasia Micropenis Mandibular prognathia Macrotia Thin upper lip vermilion Intellectual disability, moderate Attention deficit hyperactivity disorder Triangular face Focal-onset seizure Hypotelorism Prominent supraorbital ridges Intellectual disability, severe Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Dilatation Cognitive impairment Overfolding of the superior helices Optic atrophy Speech articulation difficulties Temporomandibular joint ankylosis Hypoplastic superior helix Mandibular condyle hypoplasia Question mark ear Mandibular condyle aplasia Cleft at the superior portion of the pinna Visual impairment Peripheral neuropathy Hepatomegaly Gait disturbance Spasticity Short nose Rod-cone dystrophy Abnormality of the cerebral white matter Retinal dystrophy Single transverse palmar crease Decreased liver function Decreased nerve conduction velocity Adrenal insufficiency Ureterocele Muscular hypotonia Deviated nasal septum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Sparse and thin eyebrow, related diseases and genetic alterations Melanoma and Hypothyroidism, related diseases and genetic alterations