High palate, and Joint hypermobility

Diseases related with High palate and Joint hypermobility

In the following list you will find some of the most common rare diseases related to High palate and Joint hypermobility that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • High palate
  • Glaucoma
  • Osteopenia
  • Photophobia
  • Corneal opacity


SOURCES: MESH OMIM MENDELIAN

More info about GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Related symptoms:

  • Muscle weakness
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Other less relevant matches:

Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • High palate
  • Motor delay


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 7; NEM7

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

AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • Scoliosis
  • High palate
  • Myopia
  • Dilatation
  • Hernia


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Medium match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Medium match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Joint hypermobility

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Dental crowding Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Areflexia Respiratory insufficiency Motor delay Microcephaly

Rare Symptoms - Less than 30% cases

Delayed speech and language development Micrognathia Myopathy Respiratory insufficiency due to muscle weakness Minicore myopathy Aggressive behavior Abnormal facial shape Short stature Low-set ears Pectus excavatum Joint hyperflexibility Strabismus Feeding difficulties Long face Global developmental delay Seizures Muscular hypotonia Neck muscle weakness Kyphoscoliosis Facial palsy Congenital muscular dystrophy Delayed gross motor development Muscular dystrophy Disproportionate tall stature Flexion contracture EMG: myopathic abnormalities Severe muscular hypotonia Dry skin Poor head control Delayed puberty Respiratory failure Hyperlordosis Congenital contracture Increased variability in muscle fiber diameter Limb muscle weakness Irritability Joint laxity Neonatal hypotonia Gastroesophageal reflux Hyperkeratosis Kyphosis Recurrent respiratory infections Sleep disturbance Slender build Synophrys Abnormal cortical bone morphology Abnormality of digit Narrow face Pachygyria Inability to walk Everted lower lip vermilion Cryptorchidism Polymicrogyria Tapered finger Chorea Delayed myelination Involuntary movements Delayed ability to walk Bruxism Low frustration tolerance Prominent nasal bridge Mildly elevated creatine phosphokinase Multiple joint contractures Small hand Upslanted palpebral fissure Low-set, posteriorly rotated ears Posteriorly rotated ears Malar flattening Finger syndactyly Severe global developmental delay Recurrent fractures Abnormality of cardiovascular system morphology Round face Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Inguinal hernia Intellectual disability, severe Cognitive impairment Retrognathia Spinal rigidity Weak cry Centrally nucleated skeletal muscle fibers Overweight Follicular hyperkeratosis Generalized joint laxity Pes valgus Gastrostomy tube feeding in infancy Short neck Abnormal elasticity of skin Gait ataxia Hypertelorism Hyperactivity Wide nasal bridge Intrauterine growth retardation Downslanted palpebral fissures Pes planus Abdominal aortic aneurysm Absent speech Decreased patellar reflex Macular degeneration Hyperextensible skin Decreased nerve conduction velocity Drusen Demyelinating peripheral neuropathy Constrictive median neuropathy Choroidal neovascularization Gait disturbance Distal sensory impairment Difficulty walking Proximal muscle weakness Falls Waddling gait Frequent falls Progressive muscle weakness Foot dorsiflexor weakness Sensory impairment Distal amyotrophy Nemaline bodies Increased intraocular pressure Osteopenia Photophobia Corneal opacity Tall stature Ectopia lentis Epiphora Congenital glaucoma Buphthalmos Peripheral axonal neuropathy Primary congenital glaucoma Peripheral neuropathy Skeletal muscle atrophy Abnormality of the skeletal system Hyporeflexia Pes cavus Distal muscle weakness Gowers sign Myofibrillar myopathy Cerebral atrophy Glaucoma Coronary artery atherosclerosis Abnormality of the sternum Striae distensae Aortic root aneurysm Ascending tubular aorta aneurysm Thoracic aortic aneurysm Arterial tortuosity Dural ectasia Aortic aneurysm Aortic arch aneurysm Cystic medial necrosis Hearing impairment Ataxia Ventriculomegaly Cerebellar atrophy Dystonia Emphysema Bicuspid aortic valve Ptosis Prominent nose Arrhythmia Delayed skeletal maturation Abnormality of the pinna Short philtrum Broad forehead Dolichocephaly Pulmonic stenosis Abnormality of the skin Mitral regurgitation Mitral valve prolapse Aortic valve stenosis Tricuspid regurgitation Abnormal heart valve morphology Myopia Dilatation Hernia Almond-shaped palpebral fissure


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