Micrognathia, and Feeding difficulties in infancy

Diseases related with Micrognathia and Feeding difficulties in infancy

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


Top matches:

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 BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

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

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Other less relevant matches:

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


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

Medium match MYOPATHY, MYOFIBRILLAR, 8; MFM8


Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Medium match FG SYNDROME 4; FGS4


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

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Medium match NEMALINE MYOPATHY 4; NEM4


Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Top 5 symptoms//phenotypes associated to Micrognathia and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Neonatal hypotonia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Micrognathia and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Gowers sign Poor suck Scoliosis Facial palsy Ptosis Neck muscle weakness Apnea Cleft palate Hearing impairment Global developmental delay Short stature Generalized muscle weakness Seizures Easy fatigability Low-set ears Progressive muscle weakness Hypertelorism Wide nasal bridge Dysphagia

Rare Symptoms - Less than 30% cases


Dental crowding Round face Full cheeks Narrow mouth Falls Macrocephaly Dental malocclusion Trismus Elbow flexion contracture Narrow palpebral fissure Frequent falls Preauricular skin tag Distal muscle weakness Hyperlordosis Sensorineural hearing impairment Abnormal facial shape Muscular hypotonia Skeletal muscle atrophy 2-3 toe syndactyly Hyperactivity Short philtrum Protruding ear Depressed nasal bridge Reduced vital capacity Kyphoscoliosis Nemaline bodies Long philtrum Nasal speech Scapular winging Proximal muscle weakness Unsteady gait Hyporeflexia Myopathy Peripheral neuropathy Respiratory tract infection Intellectual disability Mandibular prognathia Microcephaly Weak cry Abnormality of the foot Facial diplegia Prominent nose Camptodactyly Bulbar palsy Clinodactyly Arthrogryposis multiplex congenita Motor delay Respiratory insufficiency Respiratory distress Dysarthria Cerebellar hypoplasia Tented philtrum Submucous cleft soft palate Nystagmus Strabismus Tremor Aortic root aneurysm Short neck Behavioral abnormality Type 1 muscle fiber predominance Constipation Hypoventilation Intellectual disability, mild Midface retrusion Broad eyebrow Spinal muscular atrophy Neonatal hypoglycemia Poor speech Nocturnal hypoventilation Intellectual disability, severe Depressivity Babinski sign Central hypoventilation Retrognathia Hypoglycemia Dolichocephaly Thick eyebrow Oral-pharyngeal dysphagia High, narrow palate Highly arched eyebrow Broad nasal tip Narrow forehead Sacral dimple Tented upper lip vermilion Dysphonia Neck flexor weakness Restrictive ventilatory defect Prominent forehead Aggressive behavior Upslanted palpebral fissure Pneumonia Waddling gait Lower limb muscle weakness Cubitus valgus Bilateral choanal atresia/stenosis Opisthotonus Limb muscle weakness Limited elbow extension Difficulty walking Pectus excavatum Abnormal autonomic nervous system physiology Dilatation Renal cell carcinoma Thoracolumbar scoliosis Kyphosis Hypertonia Gait disturbance Excessive salivation Cold-induced sweating Unexplained fevers Scaling skin Mitral valve prolapse Myopathic facies Relative macrocephaly Reduced visual acuity Increased variability in muscle fiber diameter Congenital contracture Infantile muscular hypotonia Bilateral sensorineural hearing impairment Intellectual disability, profound Open mouth Pachygyria Ragged-red muscle fibers Frontal upsweep of hair Sensorimotor neuropathy Pain Anteverted nares Syndactyly Hyperhidrosis Narrow face Carcinoma Abnormal lung morphology Carious teeth Lumbar hyperlordosis Radial deviation of finger Hernia Lower eyelid coloboma Hirsutism Severe postnatal growth retardation Long face Decreased fetal movement Multiple joint contractures Prominent occiput Fatigable weakness Posteriorly rotated ears Gastroesophageal reflux Low-set, posteriorly rotated ears Cupped ear Abnormal lung lobation Ankylosis Glossoptosis Upper airway obstruction Central apnea Long penis Snoring Overfolding of the superior helices Speech articulation difficulties Temporomandibular joint ankylosis Hypoplastic superior helix Severe intrauterine growth retardation Abnormal joint morphology Question mark ear Ventriculomegaly Macrotia Respiratory insufficiency due to muscle weakness Ophthalmoparesis Type 2 muscle fiber atrophy Decreased miniature endplate potentials Growth delay Failure to thrive Cryptorchidism Intrauterine growth retardation Abnormality of cardiovascular system morphology Rocker bottom foot Clinodactyly of the 5th finger Joint stiffness Camptodactyly of finger Small for gestational age Severe global developmental delay Oral cleft Sloping forehead Interphalangeal joint contracture of finger Finger clinodactyly Short chin Mandibular condyle hypoplasia Mandibular condyle aplasia Bilateral choanal atresia Short palpebral fissure Abnormal cardiac septum morphology Prominent nasal bridge Anal atresia Cleft upper lip Thin vermilion border Hypoplasia of the maxilla Bifid uvula Underdeveloped nasal alae Renal hypoplasia Choanal atresia Blepharophimosis Renal dysplasia Abnormal palate morphology Abnormality of vision Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Coloboma Abnormality of the eye Cleft at the superior portion of the pinna Difficulty climbing stairs Areflexia Elevated serum creatine phosphokinase Recurrent respiratory infections Pes cavus Pes planus Peripheral axonal neuropathy Tall stature Poor head control Generalized amyotrophy Spinal rigidity Cleft lip Difficulty running Progressive proximal muscle weakness Myofibrillar myopathy Ventricular septal defect Atrial septal defect Short nose Malar flattening Abnormality of metabolism/homeostasis Inguinal hernia Conductive hearing impairment Generalized limb muscle atrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Erythema, related diseases and genetic alterations Motor delay and Nail dysplasia, related diseases and genetic alterations Macrocephaly and Low-set, posteriorly rotated ears, related diseases and genetic alterations Muscle weakness and Hemolytic anemia, related diseases and genetic alterations

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