Global developmental delay, and Dental malocclusion

Diseases related with Global developmental delay and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Global developmental delay and Dental malocclusion that can help you solving undiagnosed cases.

Top matches:

RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Cataract
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Other less relevant matches:

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY Is also known as cdg syndrome type iu|carbohydrate deficient glycoprotein syndrome type iu|congenital disorder of glycosylation type 1u|congenital disorder of glycosylation type iu|cdg1u|dpm2-cdg|cdg-iu|cdg iu|cdgiu|cmd with intellectual disability and severe epilepsy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Dental malocclusion

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Cupped ear Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory distress Macrocephaly Cleft palate Hearing impairment Generalized hypotonia Microcephaly Feeding difficulties Abnormal facial shape

Rare Symptoms - Less than 30% cases

Strabismus Full cheeks Glossoptosis Ankylosis Preauricular skin tag Dental crowding Round face Hirsutism Snoring Apnea Ptosis Narrow mouth Posteriorly rotated ears Growth delay Hypotelorism Failure to thrive Overfolding of the superior helices Optic atrophy High palate Protruding ear Thin upper lip vermilion Short nose Anteverted nares Mandibular prognathia Wide nasal bridge Hypertelorism Speech articulation difficulties Seizures Cleft at the superior portion of the pinna Mandibular condyle aplasia Question mark ear Mandibular condyle hypoplasia Hypoplastic superior helix Upslanted palpebral fissure Low-set, posteriorly rotated ears Anemia Sparse and thin eyebrow Low anterior hairline Scoliosis Visual impairment Cerebral calcification Short neck Osteomalacia Cerebellar hypoplasia Agenesis of corpus callosum Partial agenesis of the corpus callosum Osteopetrosis Abnormality of the outer ear Taurodontia Sparse eyebrow Atresia of the external auditory canal Brachydactyly Abnormality of the pinna Abnormality of epiphysis morphology Rickets Thrombocytopenia Hypokalemia Reduced bone mineral density Metabolic acidosis Carious teeth Hepatosplenomegaly Acidosis Nephrocalcinosis Bone pain Genu valgum Recurrent fractures Nephrolithiasis Splenomegaly Abnormal lung morphology Elevated serum acid phosphatase Diaphyseal sclerosis Muscle weakness Proximal renal tubular acidosis Primitive reflex Periodic hypokalemic paresis Distal renal tubular acidosis Cranial hyperostosis Extramedullary hematopoiesis Poor appetite Restrictive ventilatory defect Optic nerve compression Renal tubular acidosis Peripheral neuropathy Hepatomegaly Basal ganglia calcification Intellectual disability, severe Abnormality of the dentition Visual loss Abnormality of dental morphology Bulbous nose Aseptic necrosis Inverted nipples Hyperextensible skin Dermal atrophy Redundant skin Ectropion Aplasia/Hypoplasia of the eyebrow Long nose Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Skin tags Generalized hirsutism Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Cutis laxa Abnormality of the face Abnormality of the renal tubule Dry skin Periodic paralysis Bicarbonate-wasting renal tubular acidosis Talipes equinovarus Hypospadias Rigidity Conductive hearing impairment Telecanthus Wide mouth Microtia Thin vermilion border Abnormality of the genital system Congenital contracture High, narrow palate Delayed eruption of teeth Triangular face Ectodermal dysplasia Underdeveloped nasal alae Abnormality of the skin Microdontia Hypertrichosis Depressed nasal ridge Myopathic facies Sensorineural hearing impairment Trigonocephaly Long penis Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Gastroesophageal reflux Neonatal hypotonia Poor suck Bulbar palsy Upper airway obstruction Central apnea Temporomandibular joint ankylosis Stridor Epicanthus Frontal bossing Hydrocephalus Microphthalmia Midface retrusion Macrotia Cleft lip Broad forehead Smooth philtrum Slender long bone Laryngomalacia Iris coloboma Syndactyly Cataract Malar flattening Rod-cone dystrophy Retinopathy Nyctalopia Retinal dystrophy Widely spaced teeth Cone dysfunction syndrome Mottled pigmentation Autism Fine hair Craniosynostosis Single transverse palmar crease Hallux valgus Anterior plagiocephaly Ventriculomegaly Hypoplasia of the corpus callosum Sparse hair Poor speech Tapered finger Oral cleft Highly arched eyebrow Severe muscular hypotonia Periauricular skin pits Obstructive sleep apnea Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Difficulty in tongue movements Anterior open-bite malocclusion Abnormality of the temporomandibular joint Hypoplasia of first ribs Aplasia/Hypoplasia of the external ear Facial cleft Vein of Galen aneurysmal malformation Cleft helix Abnormality of the crus of the helix Postauricular skin tag Flexion contracture Elevated serum creatine phosphokinase Respiratory tract infection Generalized myoclonic seizures Postnatal microcephaly External ear malformation Bifid uvula Prominent nose Bilateral microphthalmos Omphalocele Holoprosencephaly Flat occiput Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Median cleft lip and palate Facial asymmetry Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Downslanted palpebral fissures Abnormality of male external genitalia


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