High palate, and Increased bone mineral density

Diseases related with High palate and Increased bone mineral density

In the following list you will find some of the most common rare diseases related to High palate and Increased bone mineral density 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

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Other less relevant matches:

Low 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

Low match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

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

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

Top 5 symptoms//phenotypes associated to High palate and Increased bone mineral density

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteopenia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Increased bone mineral density. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Wormian bones Depressed nasal bridge Micrognathia Midface retrusion Abnormal facial shape Microcephaly Muscular hypotonia Epicanthus Wide nasal bridge Short neck Osteoporosis Large fontanelles Downslanted palpebral fissures Recurrent fractures Motor delay Ptosis Hearing impairment Generalized hypotonia Growth delay

Rare Symptoms - Less than 30% cases

Spasticity High pitched voice Pectus excavatum Kyphosis High, narrow palate Nystagmus Rhizomelia Microretrognathia Intellectual disability, severe Failure to thrive Low-set, posteriorly rotated ears Thickened calvaria Osteolytic defects of the phalanges of the hand Intellectual disability, moderate Global developmental delay Feeding difficulties Talipes equinovarus Anteverted nares Ventriculomegaly Postnatal growth retardation Frontal bossing Increased susceptibility to fractures Prominent forehead Narrow mouth Macrocephaly Abnormality of cardiovascular system morphology Platyspondyly Malar flattening Delayed eruption of teeth Sensorineural hearing impairment Disproportionate tall stature Cleft palate Flexion contracture Increased circulating gonadotropin level Spastic diplegia Periostosis Eczematoid dermatitis Hammertoe Hip pain Clubbing of fingers Seborrheic dermatitis Secondary amenorrhea Long clavicles Wide cranial sutures Gonadal dysgenesis Titubation Decreased serum testosterone level Amelogenesis imperfecta Retinal atrophy Heart block Severe sensorineural hearing impairment Flushing Acne Joint swelling Skin rash Delayed skeletal maturation Abnormal heart morphology Patent ductus arteriosus Hyperhidrosis Brachydactyly Coarse facial features Arthralgia Arthritis Erythema Pain Limitation of joint mobility Growth hormone excess Thickened skin Neoplasm Palmoplantar hyperkeratosis Redundant skin Patent foramen ovale Internuclear ophthalmoplegia Clubbing Limited extraocular movements Progressive peripheral neuropathy Arthropathy Subperiosteal bone formation Cone-shaped epiphysis Abnormality of the skeletal system Long second metacarpal Absent frontal sinuses Parietal bossing Hypoplastic frontal sinuses Moderately short stature Spondylolysis Large foramen magnum Short middle phalanx of the 2nd finger Absent paranasal sinuses Delayed pubic bone ossification Wide pubic symphysis Persistent open anterior fontanelle Abnormal facility in opposing the shoulders Parietal foramina Cataract Recurrent infections Severe short stature High forehead Congenital cataract Abnormality of pelvic girdle bone morphology Congenital contracture Short humerus Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Calcific stippling Delayed eruption of primary teeth Delayed eruption of permanent teeth Respiratory distress Coxa vara Abnormality of the dentition Mandibular prognathia Skeletal dysplasia Pes planus Narrow chest Genu valgum Dental malocclusion Otitis media Recurrent otitis media Hypoplasia of dental enamel Short ribs Hyperkinesis Cervical ribs Neonatal respiratory distress Short femoral neck Increased number of teeth Short clavicles Syringomyelia Cone-shaped epiphyses of the phalanges of the hand Abnormality of the clavicle Hypoplastic scapulae Hypoplastic iliac wing Spondylolisthesis Short middle phalanx of the 5th finger Aplastic clavicle Bilateral ptosis Nasogastric tube feeding Sensorimotor neuropathy Joint hyperflexibility Turricephaly Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Intrauterine growth retardation Inguinal hernia Finger syndactyly Severe global developmental delay Small hand Reduced bone mineral density Round face Preauricular skin tag Abnormality of the voice Abnormality of bone mineral density Cat cry Hypertension Long philtrum Posteriorly rotated ears Kyphoscoliosis Thin upper lip vermilion Microtia Thin ribs Blue sclerae Progressive microcephaly Pectus carinatum Photophobia Corneal opacity Joint hypermobility Tall stature Ectopia lentis Epiphora Congenital glaucoma Increased intraocular pressure Buphthalmos Primary congenital glaucoma Protruding ear Facial asymmetry Oligohydramnios Progressive hearing impairment Prominent supraorbital ridges Mixed hearing impairment Generalized osteoporosis Dentinogenesis imperfecta Thoracic platyspondyly Hydrocephalus Proptosis Retrognathia Craniosynostosis Triangular face Smooth philtrum Coxa valga Primary amenorrhea Pes cavus Recurrent hand flapping Ataxia Cognitive impairment Peripheral neuropathy Dysarthria Cerebellar atrophy Intellectual disability, mild Areflexia Hyporeflexia Cerebellar hypoplasia Rod-cone dystrophy Delayed ability to walk Gait ataxia Abnormality of the nervous system Mental deterioration Ophthalmoplegia Delayed puberty Infertility Dysmetria Peripheral axonal neuropathy Sensory neuropathy Polyneuropathy Amenorrhea Glaucoma Self-injurious behavior Failure to thrive in infancy Encephalopathy Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Seizures Strabismus Visual impairment Dystonia Cerebral atrophy Absent speech Macrotia Sparse eyebrow EEG abnormality Deeply set eye Telecanthus Autistic behavior Wide mouth Abnormality of the cerebral white matter Bulbous nose Thick eyebrow Dyskinesia Thick lower lip vermilion Cerebral visual impairment Stippled calcification proximal humeral epiphyses


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