Macrocephaly, and Arthrogryposis multiplex congenita

Diseases related with Macrocephaly and Arthrogryposis multiplex congenita

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

Top matches:

Related symptoms:

  • Flexion contracture
  • Macrocephaly
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

High match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

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

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Macrocephaly and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Microcephaly Strabismus Low-set ears Ventriculomegaly Abnormal facial shape Short stature Atrial septal defect Growth delay Intrauterine growth retardation Dilatation Cerebellar hypoplasia Scoliosis Hypertelorism Failure to thrive Lissencephaly Hypoplasia of the brainstem Talipes equinovarus Cataract Feeding difficulties Hip dysplasia Ptosis Hip dislocation Micrognathia

Rare Symptoms - Less than 30% cases

Gastroesophageal reflux Hypermetropia Pectus excavatum Cerebellar dysplasia Hypotelorism Downslanted palpebral fissures Myopia Adducted thumb Cystic hygroma Retrognathia Hyperactivity Prominent nasal bridge Brachycephaly Respiratory distress Glaucoma Behavioral abnormality Aplasia/Hypoplasia of the corpus callosum Relative macrocephaly Muscular hypotonia Autistic behavior Narrow mouth Spasticity Autism Hypertonia Delayed speech and language development Plagiocephaly Microretrognathia Dandy-Walker malformation Abnormality of the foot Camptodactyly Visual impairment Skeletal muscle atrophy Agenesis of corpus callosum Premature birth Cutaneous syndactyly Decreased fetal movement Polyhydramnios Thoracic hemivertebrae Recurrent hypoglycemia Pleural effusion Steatorrhea Shallow orbits Cerebellar cyst Exaggerated startle response Severe postnatal growth retardation Diastasis recti Breech presentation Cholestatic liver disease Portal hypertension Hypochromic microcytic anemia Abnormality of the renal tubule Subcortical cerebral atrophy Hypochromic anemia Postprandial hyperglycemia Abnormal CNS myelination Neonatal asphyxia Type II lissencephaly Buphthalmos Hyperglycemia Agyria Cephalocele Hypoglycosylation of alpha-dystroglycan Hand clenching Overlapping fingers Pericardial effusion Kinked brainstem Hearing impairment Sensorineural hearing impairment Overlapping toe Anemia Diarrhea Renal insufficiency Arnold-Chiari malformation Immunodeficiency Recurrent infections Inguinal hernia High forehead Short foot Myocardial fibrosis Cholestasis Large fontanelles Chronic diarrhea Hepatitis Anencephaly Retinal dysplasia Brain atrophy Dilated cardiomyopathy Dolichocephaly Calf muscle hypertrophy Congenital cataract Pulmonic stenosis Polymicrogyria Retinal detachment Abnormal cerebellum morphology Increased variability in muscle fiber diameter Generalized muscle weakness Cerebellar vermis hypoplasia Multiple joint contractures Encephalocele Skeletal muscle hypertrophy Pachygyria Preauricular skin tag Bradycardia Congenital hip dislocation EMG abnormality Hemivertebrae Mask-like facies Congenital muscular dystrophy Knee flexion contracture Muscular dystrophy Camptodactyly of finger Abnormality of globe location Motor delay Ankle contracture Holoprosencephaly Increased urinary sedoheptulose Muscle weakness Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Optic atrophy Abnormality of the pinna Gait disturbance Respiratory insufficiency Intellectual disability, severe Myopathy Microphthalmia Areflexia Elevated serum creatine phosphokinase EEG abnormality Rigidity Neonatal hypotonia Apnea Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Scrotal hypoplasia Arachnodactyly Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Severe hydrocephalus Hypertension Prominent forehead Proptosis Pes planus Craniosynostosis Bruising susceptibility Pterygium High, narrow palate Mitral valve prolapse Oligohydramnios High myopia Tall stature Increased body weight Cutis laxa Lipodystrophy Ectopia lentis Aortic aneurysm Akinesia Hypsarrhythmia Aortic root aneurysm Metatarsus adductus Congenital contracture Dysphagia Syndactyly Mandibular prognathia Facial asymmetry Talipes Muscle cramps Limitation of joint mobility Deep philtrum Hammertoe Mild short stature Cerebral calcification Short finger Abnormality of the musculature Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Cleft palate Abnormality of metabolism/homeostasis Reduced subcutaneous adipose tissue Scaphocephaly Oculomotor apraxia Anteverted nares Anxiety Intellectual disability, moderate Attention deficit hyperactivity disorder Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Constrictive median neuropathy High palate Depressed nasal bridge Edema Intellectual disability, mild Short nose Absent speech Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Micropenis Abnormality of eye movement Webbed neck Apraxia Heterotopia Hypospadias Frontal bossing Severe intrauterine growth retardation Kyphosis Narrow nose Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Prominent scalp veins Hyperreflexia Abnormality of the skeletal system Wide mouth Cryptorchidism Short philtrum Small for gestational age Poor speech Thick eyebrow Thick vermilion border Highly arched eyebrow Short palpebral fissure Cerebral palsy Wide nasal base Prominent nasal tip Decreased palmar creases Hypoplasia of the pyramidal tract


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Iris coloboma, related diseases and genetic alterations Hepatomegaly and Skeletal dysplasia, related diseases and genetic alterations