Cleft palate, and Kyphosis

Diseases related with Cleft palate and Kyphosis

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

Top matches:

MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Other less relevant matches:

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Top 5 symptoms//phenotypes associated to Cleft palate and Kyphosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cleft palate and Kyphosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Skeletal dysplasia Kyphoscoliosis Hearing impairment Micromelia Short neck Intellectual disability Generalized hypotonia Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Pes planus Brachydactyly Talipes Intellectual disability, mild Respiratory insufficiency Feeding difficulties Blue sclerae Hip dislocation Sandal gap Cleft lip Sensorineural hearing impairment Abnormality of the skeletal system Seizures Oral cleft Cleft upper lip Coxa vara Pectus excavatum Thoracic kyphosis Flexion contracture Flat acetabular roof Hyperlordosis Micrognathia Nystagmus Cataract Hypertelorism Midface retrusion Cervical kyphosis Malar flattening Severe short stature Narrow chest Flat face Horizontal sacrum Limitation of joint mobility Pain Osteoarthritis Tibial bowing Flat capital femoral epiphysis Intervertebral space narrowing Radial bowing Elbow dislocation Prominent occiput Periarticular calcification Narrow femoral neck Abnormality of metabolism/homeostasis Cervical segmentation defect Short femoral neck Narrow iliac wings Waddling gait Tombstone-shaped proximal phalanges Hitchhiker thumb Arthralgia Arthritis Knee dislocation Short metacarpal Short toe Irregular vertebral endplates Growth abnormality Short metatarsal Spondyloepiphyseal dysplasia Widened distal phalanges Abnormal joint morphology Arthropathy Respiratory failure Tracheobronchomalacia Pulmonary hypoplasia Limb-girdle muscular dystrophy Hypertrophic cardiomyopathy Facial palsy Muscular dystrophy Arthrogryposis multiplex congenita Muscle cramps Generalized muscle weakness Decreased fetal movement Congenital hip dislocation Ophthalmoparesis Neonatal hypotonia Myopathic facies Spinal rigidity Centrally nucleated skeletal muscle fibers Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Proximal muscle weakness Polyhydramnios Lumbar hyperlordosis Short sacroiliac notch Patent foramen ovale Short middle phalanx of finger Hypoplasia of the ulna Thoracic hypoplasia Upper limb undergrowth Coronal cleft vertebrae Laryngeal stenosis Mesomelic short stature Aplasia/hypoplasia of the extremities Dumbbell-shaped femur Areflexia Muscle weakness Cognitive impairment Motor delay Fever Intrauterine growth retardation Skeletal muscle atrophy Fatigue Cardiomyopathy Myopathy Disproportionate short-limb short stature Spasticity Rhizomelia Nasal speech Autistic behavior Synophrys Long face Broad nasal tip Decreased testicular size Sloping forehead Low posterior hairline Prominent supraorbital ridges Polydactyly Preaxial polydactyly Large hands Preaxial hand polydactyly Slender finger Bilateral cleft lip Bilateral cleft lip and palate Long toe Prominent forehead Autism Upslanted palpebral fissure Osteopenia Foot pain Bifid uvula Abnormality of the skin Otitis media Recurrent otitis media Submucous cleft hard palate Heparan sulfate excretion in urine Abnormality of the acetabulum Keratan sulfate excretion in urine Atrial septal defect Myopia Glaucoma Broad forehead Retinal detachment Abnormality of epiphysis morphology Short thorax Cryptorchidism Delayed speech and language development Proptosis Sparse hair Hypoplasia of the maxilla Clinodactyly Achalasia Externally rotated hips Microcephaly Ataxia Visual impairment Syndactyly Absent speech Joint laxity Hypoplastic scapulae Pectus carinatum Toe syndactyly Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Frontal bossing Bulbar signs Mild global developmental delay Decreased body weight Craniofacial disproportion Cutis laxa Hyperextensible skin Epiphyseal dysplasia Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Dysphagia Generalized dystonia Blindness Dystonia Immunodeficiency High forehead Mental deterioration Small for gestational age Neurodegeneration Macroglossia Minicore myopathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Nail dysplasia, related diseases and genetic alterations Downslanted palpebral fissures and Sloping forehead, related diseases and genetic alterations Melanoma and Dysphagia, related diseases and genetic alterations Cleft palate and Nail dysplasia, related diseases and genetic alterations Scoliosis and Photophobia, related diseases and genetic alterations Seizures and Lumbar hyperlordosis, related diseases and genetic alterations