Micrognathism

Micrognathism
Other names	Micrognathia, strawberry chin, hypognathia1 hypognathism
Girl with Wolf–Hirschhorn syndrome
Specialty	Medical genetics

Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia.² It is common in infants,³⁴ but is usually self-corrected during growth, due to the jaws increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding.⁵ It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations.

According to the NCBI, the following conditions feature micrognathism:⁶

• 11q partial monosomy syndrome
• 3-methylglutaconic aciduria, type VIIB
• 46,XY sex reversal 4
• 4p partial monosomy syndrome
• Achard syndrome
• Acrofacial dysostosis Cincinnati type
• Acrofacial dysostosis Rodriguez type
• Acrofacial dysostosis, Catania type
• Acromegaloid facial appearance syndrome
• Adams–Oliver syndrome 2
• Agnathia-otocephaly complex
• ALG1-congenital disorder of glycosylation
• Alveolar capillary dysplasia with pulmonary venous misalignment
• Amish lethal microcephaly
• Andersen–Tawil syndrome
• Aprosencephaly cerebellar dysgenesis
• Arterial tortuosity syndrome
• Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
• Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
• Arthrogryposis multiplex congenita 5
• Arthrogryposis, distal, type 2E
• Autism spectrum disorder due to AUTS2 deficiency
• Autosomal dominant Robinow syndrome 1–3
• Autosomal recessive multiple pterygium syndrome
• Autosomal recessive osteopetrosis 5
• Autosomal recessive Robinow syndrome
• Autosomal recessive spastic paraplegia type 70
• Bailey-Bloch congenital myopathy
• Baller–Gerold syndrome
• Barber–Say syndrome
• Bartsocas–Papas syndrome 1 and 2
• Bohring–Opitz syndrome
• Bowen–Conradi syndrome
• C syndrome
• Camptomelic dysplasia
• Cardiofaciocutaneous syndrome
• Cat eye syndrome
• Catel–Manzke syndrome
• Cerebro-costo-mandibular syndrome
• Cerebrooculofacioskeletal syndrome 1–4
• CHARGE association
• Chondrodysplasia Blomstrand type
• Chondrodysplasia with joint dislocations, gPAPP type
• Cleidocranial dysostosis
• Coffin–Siris syndrome 6 and 12
• COG1 congenital disorder of glycosylation
• COG7 congenital disorder of glycosylation
• COG8-congenital disorder of glycosylation
• Cohen syndrome
• Cold-induced sweating syndrome 1
• Cole–Carpenter syndrome 1
• Complex lethal osteochondrodysplasia
• Congenital contractural arachnodactyly
• Congenital disorder of glycosylation type 1E
• Congenital disorder of glycosylation, type IIr
• Congenital disorder of glycosylation, type IIw
• Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
• Congenital myasthenic syndrome 19
• Congenital myopathy 20
• Congenital myopathy 22A, classic
• Congenital myopathy 22B, severe fetal
• Cornelia de Lange syndrome 1, 3, and 5
• Costello syndrome
• Cowden syndrome 5 and 6
• Cranioectodermal dysplasia 2 and 3
• Craniofacial microsomia
• Cutis laxa, autosomal recessive, type 1B
• D-2-hydroxyglutaric aciduria 1
• Desmosterolosis
• Developmental and epileptic encephalopathy 64, 77, 80, and 100
• Diamond–Blackfan anemia 1, 6, 10, 14 (with mandibulofacial dysostosis), 15 (with mandibulofacial dysostosis), 21
• Diaphragmatic hernia 4, with cardiovascular defects
• Diarrhea 10, protein-losing enteropathy type
• DiGeorge syndrome
• Distal arthrogryposis types 2B1 and 5D
• DPAGT1-congenital disorder of glycosylation
• Dubowitz syndrome
• Dysosteosclerosis
• Ehlers–Danlos syndrome, classic-like, 2
• Ehlers–Danlos syndrome, dermatosparaxis type
• Ehlers–Danlos syndrome, spondylodysplastic type, 1
• Emanuel syndrome
• Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
• Fanconi anemia complementation groups L and P
• Faundes–Banka syndrome
• Feingold syndrome type 1
• FG syndrome 1
• Fibrochondrogenesis 2
• Fibromuscular dysplasia, multifocal
• Fontaine progeroid syndrome
• Frank–Ter Haar syndrome
• Fraser syndrome 3
• Galloway–Mowat syndrome 1, 2 (X-linked), 3, and 7
• GAPO syndrome
• Gaucher disease perinatal lethal
• Genitopatellar syndrome
• Gordon syndrome
• Granulocytopenia with immunoglobulin abnormality
• Greenberg dysplasia
• Hajdu–Cheney syndrome
• Hallermann–Streiff syndrome
• Hamartoma of hypothalamus
• Hereditary spastic paraplegia 23
• Holoprosencephaly 13, X-linked

• Hutchinson–Gilford syndrome
• Hydrolethalus syndrome 1 and 2
• Immunodeficiency 49
• Immunodeficiency–centromeric instability–facial anomalies syndrome 1
• Infantile neuroaxonal dystrophy
• Infantile-onset X-linked spinal muscular atrophy
• Intellectual developmental disorder, autosomal dominant 64, 65, and 70
• Intellectual disability, autosomal dominant 1
• Intellectual disability, X-linked 61
• Intellectual disability, X-linked syndromic, Turner type
• Intellectual disability, X-linked, syndromic, Bain type
• Isolated cleft palate
• Isolated congenital hypoglossia/aglossia
• Isolated Pierre Robin syndrome
• Isotretinoin-like syndrome
• Kabuki syndrome
• Keppen–Lubinsky syndrome
• Knobloch syndrome 2
• Langer–Giedion syndrome
• Larsen-like syndrome, B3GAT3 type
• Lateral meningocele syndrome
• Legius syndrome
• Lethal congenital contracture syndrome 1, 2, 7, and 9
• Lethal Kniest-like syndrome
• Lethal multiple pterygium syndrome
• Lissencephaly 7 with cerebellar hypoplasia
• Liver disease, severe congenital
• Loeys–Dietz syndrome 1 and 2
• Lymphatic malformation 6
• Mandibuloacral dysplasia progeroid syndrome
• Mandibuloacral dysplasia with type A lipodystrophy
• Mandibuloacral dysplasia with type B lipodystrophy
• Mandibulofacial dysostosis with alopecia
• Mandibulofacial dysostosis-microcephaly syndrome
• Marbach-Rustad progeroid syndrome
• Marden–Walker syndrome
• Marfan syndrome
• Marshall syndrome
• Matthew–Wood syndrome
• Mayer–Rokitansky–Küster–Hauser syndrome type 2
• Meckel syndrome 13 and 14
• Meckel syndrome, type 1
• Megalocornea-intellectual disability syndrome
• Meier-Gorlin syndrome
• Melnick–Needles syndrome
• Menke-Hennekam syndrome 1 and 2
• Microcephalic osteodysplastic primordial dwarfism, type 3
• Microcephalic primordial dwarfism due to ZNF335 deficiency
• Microcephaly 13, primary, autosomal recessive
• Microcephaly 16, primary, autosomal recessive
• Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
• Microcephaly 4, primary, autosomal recessive

• Microcephaly, normal intelligence and immunodeficiency
• Microphthalmia, syndromic 12
• Miller syndrome
• Mohr syndrome
• Mucolipidosis type II
• Mucopolysaccharidosis, MPS-I-H/S
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 and 2
• Myofibrillar myopathy 8
• Nager syndrome
• NEK9-related lethal skeletal dysplasia
• Nemaline myopathy 9
• Neonatal pseudo-hydrocephalic progeroid syndrome
• Nephrotic syndrome, type 11
• Nestor-Guillermo progeria syndrome
• Neu–Laxova syndrome 1 and 2
• Neuropathy, congenital hypomyelinating, 3
• Noonan syndrome 1, 2, and 13
• Oculodentodigital dysplasia, autosomal recessive
• Ogden syndrome
• Orofacial cleft 13
• Orofacialdigital syndrome IV
• Orofaciodigital syndrome types 6 and 14
• Osteogenesis imperfecta types 3, 10, 12, and 18
• Osteopathia striata with cranial sclerosis
• Oto-palato-digital syndrome, type II
• Otospondylomegaepiphyseal dysplasia, autosomal recessive
• Pallister–Killian syndrome
• Paris-Trousseau thrombocytopenia
• Periventricular nodular heterotopia 7
• Perlman syndrome
• Peroxisome biogenesis disorder 10A (Zellweger)
• Peroxisome biogenesis disorder 13A (Zellweger)
• Peroxisome biogenesis disorder 1A (Zellweger)
• Peroxisome biogenesis disorder 2A (Zellweger)
• Peroxisome biogenesis disorder 5A (Zellweger)
• PGM1-congenital disorder of glycosylation
• Phelan–McDermid syndrome
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
• Pierre Robin syndrome-faciodigital anomaly syndrome
• Poikiloderma with neutropenia
• Polymicrogyria with or without vascular-type Ehlers–Danlos syndrome
• Pontocerebellar hypoplasia types 2E, 7, and 12
• Potocki–Lupski syndrome
• Prolidase deficiency
• Pyknodysostosis

• RAB23-related Carpenter syndrome
• Renpenning syndrome
• Restrictive dermopathy 1
• RFT1-congenital disorder of glycosylation
• Rhizomelic chondrodysplasia punctata types 1 and 2
• Ritscher–Schinzel syndrome 1 and 3
• Roberts-SC phocomelia syndrome
• Robinow syndrome, autosomal recessive 2
• Rothmund–Thomson syndrome type 2
• Rubinstein–Taybi syndrome due to 16p13.3 microdeletion
• Rubinstein–Taybi syndrome due to CREBBP mutations
• Rubinstein–Taybi syndrome due to EP300 haploinsufficiency
• Schwartz–Jampel syndrome type 1
• Seckel syndrome 1, 2, 5, 8, and 9
• SHORT syndrome
• Shprintzen–Goldberg syndrome
• Silver–Russell syndrome 1 and 2
• Smith–Lemli–Opitz syndrome
• Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
• Splenogonadal fusion-limb defects-micrognathia syndrome
• Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
• Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
• Squalene synthase deficiency
• SSR4-congenital disorder of glycosylation
• Stickler syndrome types 1 and 2
• Stromme syndrome
• Syndromic X-linked intellectual disability Claes-Jensen type
• Syndromic X-linked intellectual disability Najm type
• Tetraamelia syndrome 1 and 2
• Thickened earlobes-conductive deafness syndrome
• Toriello–Carey syndrome
• Treacher Collins syndrome
• Ventriculomegaly and arthrogryposis
• Vici syndrome
• Whistling face syndrome, recessive form
• Wiedemann–Steiner syndrome
• X-linked intellectual disability with marfanoid habitus
• Yunis–Varon syndrome
• Zaki syndrome

It can be detected by the naked eye as well as dental or skull X-ray testing.

Micrognathia can be treated by surgery.