High palate, and Skeletal dysplasia

Diseases related with High palate and Skeletal dysplasia

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

Top matches:

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

Other less relevant matches:

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match EVEN-PLUS SYNDROME

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Top 5 symptoms//phenotypes associated to High palate and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Midface retrusion Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Micrognathia Flexion contracture Delayed eruption of teeth Hypertelorism Generalized hypotonia Intellectual disability Kyphosis Short neck Hearing impairment Malar flattening Metaphyseal widening Cleft palate Abnormal facial shape Narrow chest Frontal bossing Downslanted palpebral fissures Osteopenia Depressed nasal bridge Short femoral neck Wormian bones Global developmental delay Brachydactyly Pes planus Severe short stature

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Cryptorchidism Platyspondyly Metaphyseal dysplasia Postnatal growth retardation Joint laxity Conductive hearing impairment Anteverted nares Microdontia Proptosis Intrauterine growth retardation High, narrow palate Joint hyperflexibility Rhizomelia Long philtrum Moderately short stature Coxa vara Oligohydramnios Increased susceptibility to fractures Hydrops fetalis Delayed skeletal maturation Bruising susceptibility Sparse hair Hypodontia Blue sclerae Abnormality of the skeletal system Macrocephaly Feeding difficulties Abnormality of the metaphysis Hypoplasia of the odontoid process Large fontanelles Brachycephaly Flattened epiphysis Dental malocclusion Bifid uvula Microcephaly Agenesis of corpus callosum Renal hypoplasia High forehead Spondylolysis Short nose Vesicoureteral reflux Large foramen magnum Abnormality of the pinna Short middle phalanx of the 2nd finger Neonatal hypotonia Highly arched eyebrow Anal atresia Flat face Microtia Absent paranasal sinuses Synophrys Delayed pubic bone ossification Atrial septal defect Cone-shaped epiphyses of the phalanges of the hand Gowers sign Wide pubic symphysis Respiratory insufficiency Proximal muscle weakness Kyphoscoliosis Hyporeflexia Areflexia Pectus excavatum Myopathy Ventriculomegaly Facial palsy Skeletal muscle atrophy Fever Epicanthus Motor delay Cognitive impairment Ptosis Muscle weakness Telecanthus Blepharophimosis Multiple skeletal anomalies Open mouth Restrictive deficit on pulmonary function testing Malignant hyperthermia Ankle contracture Myopathic facies Congenital contracture Tented upper lip vermilion Persistent open anterior fontanelle Short palpebral fissure Arthrogryposis multiplex congenita Narrow forehead Generalized muscle weakness Downturned corners of mouth Long second metacarpal Long face Talipes Abnormality of the foot Depressed nasal ridge Aplasia cutis congenita Inflammatory abnormality of the skin Prominent sternum Peg-like central prominence of distal tibial metaphyses Cone-shaped capital femoral epiphysis Short middle phalanx of the 5th finger Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Subcortical cerebral atrophy Mandibular prognathia Small epiphyses Flared iliac wings Delayed CNS myelination Spondyloepimetaphyseal dysplasia Thoracic kyphosis Broad foot Respiratory distress Intellectual disability, moderate Broad palm Hypoplastic scapulae Short clavicles Increased number of teeth Thickened calvaria Neonatal respiratory distress Cone-shaped epiphysis Abnormality of the clavicle Hypoplastic iliac wing Genu valgum Osteolytic defects of the phalanges of the hand Spondylolisthesis Short ribs Increased bone mineral density Hypoplasia of dental enamel Recurrent otitis media Otitis media Thin ribs Aplastic clavicle Recurrent urinary tract infections Bifid nasal tip Delayed eruption of primary teeth Absent frontal sinuses Punctate cataract Anotia Coronal cleft vertebrae Parietal bossing Atopic dermatitis Dysplastic corpus callosum Syringomyelia Overlapping toe Epiphyseal dysplasia Hypoplastic frontal sinuses Patent foramen ovale Deep philtrum Abnormality of the outer ear Vertebral clefting Hypoplastic helices Cervical ribs Optic disc pallor Short finger Intellectual disability, progressive Delayed eruption of permanent teeth Parietal foramina Low anterior hairline Abnormality of the face Delayed myelination Dysplasia of the femoral head Broad nasal tip Thick eyebrow Coarse facial features Cerebral atrophy Hypoplasia of the corpus callosum Dysarthria Seizures Forehead hyperpigmentation Gastroesophageal reflux Posterior wedging of vertebral bodies Steatorrhea Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Exocrine pancreatic insufficiency Neurodevelopmental delay Laryngeal cleft Mild short stature Metaphyseal irregularity Laryngomalacia Genu varum Severe muscular hypotonia High myopia Subglottic stenosis Hyperechogenic pancreas Respiratory tract infection Akinesia Hypoplasia of the thymus Broad ribs Overlapping fingers Fetal akinesia sequence Thoracic scoliosis Femoral bowing Adducted thumb Ventricular septal defect Torticollis Narrow palate Omphalocele Cardiomegaly Pulmonary hypoplasia Talipes equinovarus Neutropenia Constipation Stiff neck Skeletal muscle hypertrophy Upper limb undergrowth Fibular hypoplasia Gonadal dysgenesis Tibial bowing Mesomelia Hypoplasia of the ulna Hypoplasia of the radius Radial bowing Disproportionate short-limb short stature Coxa valga Short toe Tall stature Limb undergrowth Arthralgia Short tibia Short 4th metacarpal Thrombocytopenia Shortening of the tibia Diarrhea Myopia Anemia Increased carrying angle Dorsal subluxation of ulna Abnormal metatarsal morphology Limited wrist movement Abnormality of the humerus Long fibula Mesomelic short stature Multiple exostoses Abnormality of the carpal bones Madelung deformity Limited elbow movement Lethal skeletal dysplasia Overriding aorta Posterior Y-sutural cataract Wide mouth Thin vermilion border Abnormality of skin pigmentation Smooth philtrum Pulmonic stenosis Carious teeth Prominent nasal bridge Thin upper lip vermilion Hypoplasia of the maxilla Prominent forehead Optic atrophy Wide nasal bridge Delayed speech and language development Cataract Orbital craniosynostosis Wide nose Prominent nose Multiple suture craniosynostosis Capillary hemangioma Sutural cataract High iliac wings Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification Premature loss of teeth Esotropia Brittle hair Prominent supraorbital ridges Coarse hair Hemangioma Wide anterior fontanel Hyperpigmentation of the skin Crumpled long bones Severe hydrops fetalis Camptodactyly of finger Irregular vertebral endplates Absent palmar crease Cigarette-paper scars Thenar muscle atrophy Flat capital femoral epiphysis Broad femoral neck Prominent superficial veins Hyperextensible skin Hydrocephalus Joint contracture of the hand Short phalanx of finger Thin skin Waddling gait Short metacarpal Tapered finger Muscular hypotonia Edema Vertebral compression fractures Pathologic fracture Communicating hydrocephalus Coronal craniosynostosis Shallow orbits Turricephaly Central hypotonia Hyperthyroidism High pitched voice Craniosynostosis Abnormality of the voice Abnormality of dental enamel Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the ribs Recurrent fractures Abnormal facility in opposing the shoulders


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