Micrognathia, and Severe short stature

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

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

SOURCES: OMIM MENDELIAN

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

• Micrognathia
• Macrocephaly
• Frontal bossing
• Talipes equinovarus
• Anteverted nares

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MESH MENDELIAN

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}.

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

SOURCES: OMIM MENDELIAN

• Seizures
• Global developmental delay
• Short stature
• Microcephaly
• Growth delay

SOURCES: OMIM MENDELIAN

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

• Scoliosis
• Micrognathia
• Cleft palate
• Depressed nasal bridge
• Frontal bossing

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

• Micrognathia
• Macrocephaly
• Frontal bossing
• Anteverted nares
• Short neck

SOURCES: ORPHANET MENDELIAN