Micrognathia, and Pes cavus

Diseases related with Micrognathia and Pes cavus

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

Top matches:

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

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

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Other less relevant matches:

Medium match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Top 5 symptoms//phenotypes associated to Micrognathia and Pes cavus

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Small hand Muscle weakness Short stature Hyporeflexia Cataract Myopathy Gait disturbance Spasticity Pes planus Kyphosis Spinal rigidity Microcephaly Seizures Delayed speech and language development Hypertelorism Retrognathia Motor delay Feeding difficulties Ptosis Growth delay

Rare Symptoms - Less than 30% cases

Macrotia Osteolysis involving tarsal bones Kyphoscoliosis Intellectual disability, severe Macrocephaly Talipes equinovarus Metatarsal osteolysis Cryptorchidism Slender build Increased variability in muscle fiber diameter Clumsiness Long face Carpal osteolysis Corneal opacity Intellectual disability, mild Osteopenia Retinopathy Hypoplasia of the maxilla Gait ataxia Interphalangeal joint contracture of finger Arthritis Difficulty walking Tremor Osteolysis Absent speech Proptosis Ataxia Decreased body weight Wide nasal bridge Metacarpal osteolysis Poor coordination Brachycephaly Arthralgia Camptodactyly of finger Polyhydramnios Facial palsy Distal muscle weakness Falls Frequent falls Tall stature Scapular winging Elevated serum creatine phosphokinase Areflexia Peripheral neuropathy Poor head control Exercise intolerance Gowers sign Generalized amyotrophy Neck muscle weakness Feeding difficulties in infancy Reduced vital capacity Nemaline bodies Metaphyseal irregularity Muscular hypotonia of the trunk Abnormal pyramidal sign Spastic paraplegia Genu valgum Paraplegia Asthma Tetraplegia Parkinsonism Abnormality of extrapyramidal motor function Apraxia Spastic tetraplegia Psychosis Choreoathetosis Generalized hypertrichosis Postnatal microcephaly Spastic gait Thin metatarsal cortices Distal tapering of metatarsals Paraparesis Sensory neuropathy Spastic paraparesis Delayed closure of the anterior fontanelle Drooling Progressive spasticity Restlessness Wrist flexion contracture Peripheral opacification of the cornea EEG abnormality Interphalangeal joint erosions Thoracic scoliosis Metaphyseal cupping Vertical nystagmus Sinus tachycardia Congenital contracture Thin metacarpal cortices Hyperreflexia Severe generalized osteoporosis Coxa vara Finger swelling Short neck Abnormality of the dentition Dystonia Short femoral neck Broad-based gait Peripheral demyelination Encephalopathy Babinski sign Facial hypotonia C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Widened metacarpal shaft Camptodactyly of toe Ankylosis of feet small joints Pneumonia Progressive spastic paraparesis Macroorchidism Osteoporosis Myopathic facies Multiple lipomas Hyperthyroidism Mitochondrial myopathy Prolactin excess Arthropathy Narrow nasal bridge Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Brachydactyly Frontal bossing Abnormality of the thyroid gland Diabetes mellitus Dysdiadochokinesis Hypothyroidism Coarse facial features Bulbous nose Hirsutism Delayed eruption of teeth Hypertrichosis Split hand Subcutaneous nodule Abnormality of the ear Thickened skin Gingival overgrowth Knee flexion contracture Metaphyseal widening Abnormality of the thorax Hip contracture Schizophrenia Bruxism Cerebellar hypoplasia Shuffling gait Excessive salivation Generalized osteoporosis Hypermelanotic macule Mania Vertebral compression fractures Juvenile cataract Hearing impairment Antinuclear antibody positivity Ankylosis Depressivity Pectus excavatum Delayed skeletal maturation Mandibular prognathia Ankle contracture Myalgia Anxiety Pallor Dysmetria Distal amyotrophy Distal sensory impairment Inability to walk Sensory impairment Amenorrhea Pigmentary retinopathy Intention tremor Primary amenorrhea Limb ataxia Truncal ataxia Congenital cataract Telecanthus Severe short stature Fatigable weakness of bulbar muscles Narrow face Muscle stiffness Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Mildly elevated creatine phosphokinase Facial diplegia Fetal akinesia sequence Bulbar signs Type 1 muscle fiber predominance Breech presentation Poor fine motor coordination Generalized limb muscle atrophy Increased muscle lipid content Neuromuscular dysphagia Waddling gait Downslanted palpebral fissures Hypertonia Long philtrum Abnormality of cardiovascular system morphology Inguinal hernia Low-set, posteriorly rotated ears Joint stiffness Broad forehead Finger syndactyly Joint hyperflexibility Round face Hypoplasia of penis Fine hair Abnormality of the metaphysis Bradykinesia Limb muscle weakness Hoarse voice Dysphagia Low-set ears Respiratory insufficiency Dyspnea Gastroesophageal reflux Rigidity Joint laxity Pectus carinatum Generalized muscle weakness Abnormal lung morphology Bulbar palsy Centrally nucleated skeletal muscle fibers Recurrent lower respiratory tract infections Chronic lung disease Recurrent respiratory infections Narrow chest Neonatal hypotonia Proximal muscle weakness Respiratory tract infection Peripheral axonal neuropathy Dental crowding Progressive muscle weakness Easy fatigability Nasal speech Difficulty climbing stairs Difficulty running Progressive proximal muscle weakness Myofibrillar myopathy Cardiomyopathy Arthrogryposis multiplex congenita Broad thumb Abnormality of the fingernails Abnormality of the skeletal system Abnormality of epiphysis morphology Malar prominence Uplifted earlobe Short ear Hypertension Renal insufficiency Proteinuria Pulmonic stenosis Stage 5 chronic kidney disease Downturned corners of mouth Nephropathy Triangular face Limitation of joint mobility Hypotelorism EMG abnormality Truncal obesity Cachexia Elevated alkaline phosphatase Rheumatoid arthritis Slender long bone Abnormality of the wrist Juvenile rheumatoid arthritis Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Azotemia Hypertensive retinopathy Ankle swelling Doll-like facies Wrist swelling Epicanthus Misalignment of teeth Decreased muscle mass Accelerated skeletal maturation Thin upper lip vermilion Sandal gap Deep philtrum Redundant skin Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Abnormally low-pitched voice Abnormal facial shape Muscular hypotonia Obesity Hypogonadism Micropenis Deeply set eye Emotional lability Microtia Neurological speech impairment Hypermetropia Delayed puberty Poor speech Thick eyebrow Short foot Tapered finger Broad nasal tip Decreased testicular size Specific learning disability Gynecomastia Hypogonadotrophic hypogonadism Prominent supraorbital ridges Sclerotic cranial sutures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Broad forehead, related diseases and genetic alterations High palate and Wide intermamillary distance, related diseases and genetic alterations Pain and Underdeveloped nasal alae, related diseases and genetic alterations Breast carcinoma and Psoriasiform dermatitis, related diseases and genetic alterations