Abnormal facial shape, and Decreased fetal movement

Diseases related with Abnormal facial shape and Decreased fetal movement

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Decreased fetal movement that can help you solving undiagnosed cases.


Top matches:

Medium match SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME


Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Medium match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

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Other less relevant matches:

Medium match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Medium match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Medium match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Medium match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


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 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Medium match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Decreased fetal movement

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Long face Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Decreased fetal movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Global developmental delay Hypertelorism Respiratory failure Intrauterine growth retardation Myopathy Low-set ears Flexion contracture Respiratory insufficiency due to muscle weakness Respiratory distress Polyhydramnios Muscle weakness Muscular hypotonia Feeding difficulties Easy fatigability Microcephaly Ventricular septal defect Seizures Hypoplasia of the corpus callosum Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Motor delay Joint contracture of the hand Poor suck Scaphocephaly Weak cry Fatigable weakness Generalized muscle weakness Wide nasal bridge Scoliosis Pachygyria Narrow face Gowers sign Ptosis Delayed speech and language development Atrial septal defect Talipes equinovarus Congestive heart failure Frequent falls Dysphagia Strabismus Mandibular prognathia Intellectual disability Hypertonia Absent speech Dental malocclusion Polymicrogyria Decreased muscle mass Myopathic facies Respiratory insufficiency Akinesia Cortical gyral simplification Facial palsy Fetal akinesia sequence Proximal muscle weakness Increased variability in muscle fiber diameter Falls Open mouth Areflexia Abnormal cardiac septum morphology Camptodactyly Small for gestational age Thoracic kyphosis Neck muscle weakness Difficulty running Facial diplegia Progressive muscle weakness Centrally nucleated skeletal muscle fibers Muscular dystrophy Pectus excavatum Pes cavus Dyspnea Retrognathia Pes planus Hyperlordosis Distal muscle weakness Narrow chest Difficulty climbing stairs Sensory impairment Waddling gait Lumbar hyperlordosis Muscle stiffness Knee flexion contracture EMG: myopathic abnormalities Congenital muscular dystrophy Pectus carinatum Broad forehead Nemaline bodies Ambiguous genitalia Ventriculomegaly Immunodeficiency Hernia Recurrent respiratory infections Protruding ear Asthma Convex nasal ridge Congenital diaphragmatic hernia Short stature Hypertrichosis Abnormal lung morphology Recurrent urinary tract infections Multicystic kidney dysplasia Clitoral hypertrophy Recurrent lower respiratory tract infections Chronic lung disease Failure to thrive Generalized neonatal hypotonia Distal lower limb amyotrophy Downslanted palpebral fissures Distal lower limb muscle weakness Slender build Myokymia Shoulder girdle muscle atrophy Cataract Epicanthus Hepatomegaly High forehead Right aortic arch Severe global developmental delay Pulmonic stenosis Round face Prominent nose Epiphyseal stippling Secundum atrial septal defect Perimembranous ventricular septal defect Kyphosis Decreased size of nerve terminals Prominent occiput Hyperreflexia Impulsivity Lissencephaly Spastic tetraparesis Heterotopia Hemiparesis Tetraparesis Thick lower lip vermilion Sloping forehead Intellectual disability, moderate Aggressive behavior Hyperactivity Cerebellar hypoplasia Long philtrum Intellectual disability, severe Oval face Abnormal corpus callosum morphology Spastic tetraplegia Cryptorchidism Muscular hypotonia of the trunk Severe muscular hypotonia Dilation of lateral ventricles Small hand Tetraplegia Cortical dysplasia Overlapping fingers Severe intrauterine growth retardation Perisylvian polymicrogyria Dolichocephaly Arachnodactyly High, narrow palate Single transverse palmar crease Maternal diabetes Schizencephaly Multiple joint contractures Triangular face Narrow palpebral fissure Respiratory tract infection Apnea Short umbilical cord Abnormality of the diaphragm Thoracic kyphoscoliosis Ulnar deviation of the hand Preeclampsia Cardiorespiratory arrest Ankylosis Bilateral talipes equinovarus Congenital contracture Pterygium Adducted thumb Pulmonary hypoplasia Dysarthria Limb-girdle muscle weakness Skeletal muscle atrophy Fatigue Limb muscle weakness Muscle cramps Ophthalmoparesis Abnormality of the immune system Type 2 muscle fiber atrophy Talipes EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Depressed nasal bridge Hypertension Anteverted nares Kyphoscoliosis Thin upper lip vermilion Pulmonary artery hypoplasia



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