Micrognathia, and Ptosis

Diseases related with Micrognathia and Ptosis

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


Top matches:

Medium match MEIER-GORLIN SYNDROME 8; MGORS8


Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Narrow mouth


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 8; MGORS8

Medium match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

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Other less relevant matches:

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Medium match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


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

Medium match MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B


Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B

Medium 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

Medium match MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B


Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

Medium 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

Top 5 symptoms//phenotypes associated to Micrognathia and Ptosis

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Flexion contracture Hearing impairment Facial palsy Clinodactyly Narrow mouth Intellectual disability Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Cryptorchidism Prominent nose Dysarthria Strabismus Type 2 muscle fiber atrophy Neck muscle weakness Distal arthrogryposis Weak cry Camptodactyly Easy fatigability Generalized hypotonia Progressive muscle weakness Dental crowding Talipes equinovarus Global developmental delay Facial diplegia Neonatal hypotonia Macrotia Smooth philtrum Muscle weakness Short stature Esotropia Blepharophimosis Sensorineural hearing impairment Wide nasal bridge Syndactyly Short nose Long philtrum Hypertelorism Poor suck Narrow forehead Elbow flexion contracture Knee flexion contracture Respiratory distress Respiratory insufficiency Scapular winging Microretrognathia Calcaneovalgus deformity Tall chin Ophthalmoplegia Cutaneous syndactyly of toes Poor head control Akinesia Symphalangism affecting the phalanges of the hand Hip contracture Trismus Ankle contracture Fetal akinesia sequence Abnormality of the musculature Short finger Mild short stature Metatarsus adductus Pulmonary hypoplasia Retrognathia Decreased fetal movement Hypermetropia Generalized muscle weakness Motor delay Scoliosis Accommodative esotropia Esophoria High-frequency hearing impairment Facial paralysis Gowers sign High hypermetropia Deep philtrum Downturned corners of mouth Paralysis Protruding ear Posteriorly rotated ears Midface retrusion Ophthalmoparesis Anteverted nares Bulbar palsy Epicanthus Delayed speech and language development Decreased miniature endplate potentials Congenital contracture Seizures Areflexia Respiratory insufficiency due to muscle weakness Hammertoe Scrotal hypoplasia Cutaneous syndactyly Malar flattening Ulnar deviation of the hand Abnormality of the wrist Ulnar deviation of finger Congenital sensorineural hearing impairment Narrow face Depressed nasal ridge Interphalangeal joint contracture of finger Bilateral sensorineural hearing impairment Hypoplasia of the maxilla High, narrow palate Wide nose Flat face Camptodactyly of finger Telecanthus Downslanted palpebral fissures Ulnar deviation of the hand or of fingers of the hand Intrauterine growth retardation Microtia Thick vermilion border Renal hypoplasia Bilateral cryptorchidism Growth delay Hepatomegaly Thrombocytopenia Megakaryocyte dysplasia Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Lacrimal duct atresia Ulnar deviation of the wrist Hip dysplasia Carcinoma Limitation of joint mobility Muscle cramps Talipes Facial asymmetry Abnormality of the foot Hip dislocation Mandibular prognathia Macrocephaly Cafe-au-lait spot Decreased body weight Triangular face Bulbous nose Thin vermilion border Joint hypermobility Coarse facial features Aplasia/Hypoplasia involving the nose Dolichocephaly Limited wrist movement Arrhythmia Delayed skeletal maturation Abnormality of the pinna Short philtrum Broad forehead Pulmonic stenosis Abnormal heart valve morphology Joint hyperflexibility Long face Abnormality of the skin Mitral valve prolapse Aortic valve stenosis Tricuspid regurgitation Internally rotated shoulders



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Thrombocytopenia, related diseases and genetic alterations Obesity and Clinodactyly, related diseases and genetic alterations Cleft palate and Hypotelorism, related diseases and genetic alterations Muscle weakness and Pneumonia, related diseases and genetic alterations

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