High palate, and Severe short stature

Diseases related with High palate and Severe short stature

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

Top matches:

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|dyschondrosteosis, homozygous

Related symptoms:

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LANGER MESOMELIC DYSPLASIA

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. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

Other less relevant matches:

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

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

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. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

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

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

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL 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

Top 5 symptoms//phenotypes associated to High palate and Severe short stature

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Congenital contracture Flexion contracture Scoliosis Rhizomelia Growth delay Failure to thrive Generalized hypotonia Downslanted palpebral fissures Hypertelorism Microcephaly Spasticity Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Epiphyseal stippling Mesomelic short stature Shortening of the tibia Skeletal dysplasia Long philtrum Hearing impairment Short neck Short humerus Radial bowing Delayed skeletal maturation Midface retrusion Prominent nasal bridge Hypodontia Madelung deformity Abnormality of the carpal bones Ulnar deviation of finger Muscular hypotonia Talipes equinovarus Feeding difficulties Depressed nasal bridge Anteverted nares High forehead Bowing of the long bones Osteopenia Disproportionate short-limb short stature Hypoplasia of the radius Hypoplasia of the ulna Short femoral neck Muscle weakness Mesomelia Synophrys Congenital cataract Cataract Narrow face Protruding ear Joint stiffness Webbed neck Triangular face Camptodactyly of finger Hip dislocation Talipes Arthrogryposis multiplex congenita Abnormality of the foot Facial asymmetry Facial palsy Camptodactyly Vertebral clefting Cleft lip Generalized amyotrophy Peripheral neuropathy Abnormality of the skeletal system Hyporeflexia Pes cavus Sensory neuropathy Asthma Peripheral demyelination Broad-based gait Decreased body weight Coxa vara Metaphyseal irregularity Thoracic scoliosis Kyphoscoliosis Metaphyseal cupping Vertical nystagmus Sinus tachycardia Ptosis Congenital hip dislocation Myopathy Malar flattening Elevated serum creatine phosphokinase Posteriorly rotated ears Narrow mouth Mandibular prognathia Bilateral single transverse palmar creases Trismus Short chin Recurrent urinary tract infections Sparse hair Microtia Anal atresia Flat face Hypoplastic helices Highly arched eyebrow Vesicoureteral reflux Oligohydramnios Renal hypoplasia Depressed nasal ridge Inflammatory abnormality of the skin Abnormality of the outer ear Abnormality of the pinna Deep philtrum Dysplastic corpus callosum Patent foramen ovale Epiphyseal dysplasia Overlapping toe Metaphyseal dysplasia Aplasia cutis congenita Hypoplasia of the odontoid process Atopic dermatitis Bifid nasal tip Coronal cleft vertebrae Postnatal growth retardation Neonatal hypotonia Narrow palpebral fissure Anotia Adducted thumb Rocker bottom foot Metatarsus adductus Multiple joint contractures Mildly elevated creatine phosphokinase Vertebral segmentation defect Abnormality of the ear Tarsal synostosis Abnormality of the hip bone Aplasia/Hypoplasia of the radius Distal arthrogryposis Overlapping fingers Brachycephaly Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Orbital craniosynostosis Prominent nasolabial fold Round ear Absent phalangeal crease Abnormal facial shape Atrial septal defect Abnormality of the dentition Short nose Agenesis of corpus callosum Seizures Joint hyperflexibility Crumpled long bones Selective tooth agenesis Retrognathia Pes planus Blepharophimosis Convex nasal ridge Sloping forehead Oligodontia Clitoral hypertrophy Proportionate short stature Abnormal cortical gyration 11 pairs of ribs Large beaked nose Cryptorchidism Arthralgia Conductive hearing impairment High, narrow palate Limb undergrowth Tall stature Short toe Coxa valga Skeletal muscle hypertrophy Tibial bowing Gonadal dysgenesis Clinodactyly of the 5th finger Strabismus Upper limb undergrowth Hypopituitarism Intellectual disability, mild Hypothyroidism Coarse facial features Intellectual disability, moderate Delayed puberty Growth hormone deficiency Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Myelomeningocele Short femur Panhypopituitarism Micromelia Lumbar hyperlordosis Abnormality of epiphysis morphology Broad palm Abnormality of the ulna Aplasia/Hypoplasia of the fibula Mesomelic/rhizomelic limb shortening Rudimentary fibula Broad ulna Fibular hypoplasia Short tibia Multiple suture craniosynostosis Increased susceptibility to fractures Delayed eruption of teeth Recurrent fractures Microdontia Abnormality of the ribs Blue sclerae Abnormal form of the vertebral bodies Abnormality of the metaphysis Hydrops fetalis Wormian bones Abnormality of dental enamel Abnormality of the voice Craniosynostosis High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Bruising susceptibility Proptosis Short 4th metacarpal Abnormality of pelvic girdle bone morphology Abnormality of the humerus Limited elbow movement Multiple exostoses Long fibula Limited wrist movement Abnormal metatarsal morphology Dorsal subluxation of ulna Increased carrying angle Recurrent infections Large fontanelles Irregular vertebral endplates Kyphosis Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Low-set ears Brachydactyly Intrauterine growth retardation Macrocephaly Frontal bossing Hydrocephalus Edema Dysplasia of the femoral head


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