Abnormal facial shape, and Delayed eruption of teeth

Diseases related with Abnormal facial shape and Delayed eruption of teeth

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Delayed eruption of teeth that can help you solving undiagnosed cases.


Top matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


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

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Low match BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

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Other less relevant matches:

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Low match CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

Low match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Low match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Delayed eruption of teeth

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Delayed eruption of teeth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed skeletal maturation Depressed nasal bridge Sensorineural hearing impairment Coarse facial features Osteoporosis Osteopenia Thick eyebrow Motor delay Hypertrichosis Global developmental delay Hypoplasia of dental enamel Scoliosis

Rare Symptoms - Less than 30% cases


Low anterior hairline Severe short stature Brachydactyly Relative macrocephaly Reduced number of teeth Widely spaced teeth Depressed nasal ridge Microdontia Skeletal dysplasia Mandibular prognathia Hypoglycemia Truncal obesity Hirsutism Intrauterine growth retardation Microcephaly Wide mouth Generalized hypotonia Cataract Myopia Delayed eruption of permanent teeth Full cheeks Bilateral sensorineural hearing impairment Gingival overgrowth Visual impairment Seizures Cognitive impairment Macrocephaly Anteverted nares Thick vermilion border Platyspondyly Prominent forehead Conductive hearing impairment Coloboma Wide nasal bridge Facial asymmetry Hypoplasia of the maxilla Protruding ear Progressive hearing impairment Abnormality of cardiovascular system morphology High palate Prominent supraorbital ridges Mixed hearing impairment Abnormality of the nasopharynx Hyperostosis Flared metaphysis Metaphyseal dysplasia Osteopetrosis Abnormal cranial nerve morphology Cranial nerve compression Sclerosis of skull base Short attention span Craniofacial hyperostosis Severe postnatal growth retardation Epiphora Nasal obstruction Nasolacrimal duct obstruction Abnormality of the mouth Broad alveolar ridges Intellectual disability, mild Facial palsy Abnormality of the thorax Generalized hypertrichosis Generalized hirsutism Small placenta Prelingual sensorineural hearing impairment Deep philtrum Peritonitis Gingival fibromatosis Wide nasal base Thick nasal alae Neonatal hyperbilirubinemia Thoracic kyphoscoliosis Metaphyseal widening Congenital, generalized hypertrichosis Hypertelorism Concave nasal ridge Optic atrophy Respiratory distress Visual loss Telecanthus Asymmetry of the mandible Abnormality of the metaphysis Facial hyperostosis Severe intrauterine growth retardation Bony paranasal bossing Clinodactyly Brachycephaly Attention deficit hyperactivity disorder Postnatal growth retardation Aggressive behavior Short foot Hyperactivity Round face Hypogonadism Clinodactyly of the 5th finger Short metacarpal Short neck Abnormality of metabolism/homeostasis Cerebral calcification Short metatarsal Impulsivity Short 4th metacarpal Pseudohypoparathyroidism Ectopic calcification Growth delay Failure to thrive Ptosis Obesity Small for gestational age Club-shaped distal femur Wide nose Patchy sclerosis of finger phalanx Behavioral abnormality Congenital sensorineural hearing impairment Radial deviation of finger Feeding difficulties Cafe-au-lait spot Abnormal heart morphology Cerebellar hypoplasia Insulin resistance Sparse hair Macroglossia Pain Decreased body weight Dandy-Walker malformation Low posterior hairline Single transverse palmar crease Sparse scalp hair Long eyelashes Abnormal corpus callosum morphology Aplasia/Hypoplasia of the distal phalanges of the hand Lacrimal duct aplasia Nystagmus Abnormality of the skeletal system Macrodontia Overgrowth Arachnodactyly Hydroureter Glossoptosis Stenosis of the external auditory canal Trismus Eyelid coloboma Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Dilatation Short palm Cupped ear Mitral valve prolapse Oligodontia Aortic aneurysm Agenesis of permanent teeth Amelogenesis imperfecta Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Narrow vertebral interpedicular distance Preauricular pit Sparse eyebrow Herniation of intervertebral nuclei Thoracic platyspondyly Malar flattening Midface retrusion Narrow mouth Pectus carinatum Recurrent fractures Increased bone mineral density Wormian bones Increased susceptibility to fractures Generalized osteoporosis Dentinogenesis imperfecta Cleft palate Bicuspid aortic valve Low-set ears Short nose Depressivity Alopecia Abnormality of the pinna Everted lower lip vermilion Dental crowding Preauricular skin tag Sparse and thin eyebrow Sparse eyelashes Intervertebral space narrowing High forehead Bulbous nose Otitis media with effusion Taurodontia Periodontitis Retinal coloboma High-frequency hearing impairment Pulp stones High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Abnormality of the maxilla Increased number of teeth Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Ataxia Epicanthus Downslanted palpebral fissures Macrotia Kyphoscoliosis EEG abnormality Synophrys Ankylosis Progressive sensorineural hearing impairment Delayed puberty Abnormality of the skull Hypoplasia of penis Blue sclerae Osteoarthritis Hypohidrosis Short toe Hypercholesterolemia High pitched voice Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Abnormality of the endocrine system Abnormality of dental enamel Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Long philtrum Microphthalmia Carious teeth Long face Iris coloboma Microcornea Hypodontia Ectodermal dysplasia Congenital bilateral ptosis



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