Micrognathia, and Esotropia

Diseases related with Micrognathia and Esotropia

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


Top matches:

Low match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Low match CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE


Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

Low match ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY


AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY

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Other less relevant matches:

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Low match GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME


Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Top 5 symptoms//phenotypes associated to Micrognathia and Esotropia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Esotropia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Delayed speech and language development High palate Feeding difficulties Nystagmus Abnormal facial shape Optic atrophy Microcephaly Hypertelorism Muscular hypotonia of the trunk Spasticity Cerebral atrophy Cerebellar atrophy Low-set ears Hypoplasia of the corpus callosum Sensorineural hearing impairment Ptosis Ataxia Depressed nasal bridge Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases


Poor head control Microretrognathia Dental crowding Obstructive sleep apnea Narrow forehead Arthrogryposis multiplex congenita Retrognathia Areflexia Talipes equinovarus Progressive microcephaly Short stature Deeply set eye Myopia Apnea Hyporeflexia Thin upper lip vermilion Pectus carinatum Downslanted palpebral fissures Visual impairment Dystonia Delayed myelination Cerebellar hypoplasia Long face Distal amyotrophy Hearing impairment Broad forehead Elbow flexion contracture Midface retrusion Decreased fetal movement Absent speech Generalized muscle weakness Knee flexion contracture Cataract EMG: myopathic abnormalities Short nose Short neck Spinal rigidity Flexion contracture Dysphagia Muscle weakness Epicanthus Hypermetropia Delayed skeletal maturation Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Malar flattening Patent foramen ovale Gait ataxia Mandibular prognathia High forehead Pes planus Anemia Cleft palate Hypertrophic cardiomyopathy Olivopontocerebellar hypoplasia Congenital cataract Microphallus Narrow mouth Synophrys Conductive hearing impairment Flat face Hypercalciuria Large forehead Nephrocalcinosis Elliptocytosis Finger clinodactyly Renal dysplasia Bifid uvula Broad distal phalanx of finger Delayed eruption of teeth Mild conductive hearing impairment Hydronephrosis Cleft hard palate Peripheral neuropathy Frontal bossing Abnormality of the skeletal system Cardiomyopathy Joint hypermobility Thin vermilion border Talipes Mixed hearing impairment Severe sensorineural hearing impairment Recurrent respiratory infections Delayed puberty Spinal deformities Bulbar palsy Weak cry Fatigable weakness Neck muscle weakness Central hypotonia Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Central sleep apnea Stridor EEG with polyspike wave complexes Staring gaze Sudden episodic apnea Nasal regurgitation Apneic episodes precipitated by illness, fatigue, stress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Toe walking Nasal speech Abnormality of the foot Polyhydramnios Peripheral axonal neuropathy Inability to walk Increased serum lactate Aciduria Hip dysplasia Absence seizures Optic nerve hypoplasia Abnormality of mitochondrial metabolism Motor delay Thick upper lip vermilion Pes cavus Gastroesophageal reflux Poor suck Kyphoscoliosis Difficulty walking Proximal muscle weakness Joint laxity Ophthalmoplegia Waddling gait Cyanosis Diplopia Congenital hip dislocation Easy fatigability Dysphonia Sex reversal Abnormal electroretinogram Hypoplasia of the pons Akinesia Diaphragmatic weakness Abnormality of muscle fibers Increased endomysial connective tissue Increased laxity of fingers Hyperextensibility at wrists Camptodactyly Protruding ear Pulmonary hypoplasia Scapular winging Hip contracture Long toe Distal arthrogryposis Ankle contracture Fetal akinesia sequence Internally rotated shoulders Growth delay Intrauterine growth retardation Proteinuria Dysmetria Arachnodactyly Stage 5 chronic kidney disease Pes valgus Slender finger Nephrotic syndrome High-frequency hearing impairment Dysarthria Anteverted nares Posteriorly rotated ears Facial palsy Paralysis Smooth philtrum Downturned corners of mouth High hypermetropia Facial diplegia Facial paralysis Esophoria Generalized amyotrophy Accommodative esotropia Kyphosis Elevated serum creatine phosphokinase Respiratory failure Hip dislocation Frequent falls Torticollis Abnormal palate morphology Adducted thumb Increased variability in muscle fiber diameter Polymicrogyria Glomerulosclerosis Nevus flammeus Abnormality of the cerebral white matter Hyperreflexia Wide nasal bridge Ventriculomegaly Hypertonia Myoclonus Hypogonadism Micropenis Macrotia Irritability Spastic paraplegia Gliosis Laryngotracheomalacia Chorea Nevus Ambiguous genitalia Fasciculations Hypergonadotropic hypogonadism Oculomotor apraxia Prominent supraorbital ridges Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Cryptorchidism Prominent fingertip pads Focal segmental glomerulosclerosis Uplifted earlobe Minimal change glomerulonephritis Failure to thrive Respiratory distress Behavioral abnormality Sleep apnea Laryngomalacia Cortical gyral simplification Tracheomalacia Snoring Retrocerebellar cyst Short philtrum Short upper lip Anal atresia Astigmatism Postnatal microcephaly Gingival overgrowth Cerebral visual impairment Low anterior hairline Intellectual disability, progressive Limb hypertonia Abnormality of visual evoked potentials Corpus callosum atrophy Acetylcholine receptor antibody positivity



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