Micrognathia, and Low-set ears

• Micrognathia
• Cryptorchidism
• Ptosis
• Low-set ears
• Narrow mouth

SOURCES: OMIM MENDELIAN

Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

• Micrognathia
• Low-set ears
• Ventricular septal defect
• Cleft lip
• Oral cleft

SOURCES: OMIM MENDELIAN

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

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

SOURCES: ORPHANET MENDELIAN

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

• Intellectual disability
• Growth delay
• Hypertelorism
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM ORPHANET MENDELIAN

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

• Microcephaly
• Scoliosis
• Growth delay
• Hypertelorism
• Micrognathia

SOURCES: OMIM MENDELIAN

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

• Intellectual disability
• Short stature
• Micrognathia
• Ptosis
• Low-set ears

SOURCES: ORPHANET MENDELIAN

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

• Intellectual disability
• Hearing impairment
• Low-set ears
• Downslanted palpebral fissures
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

• Global developmental delay
• Microcephaly
• Growth delay
• Micrognathia
• Cleft palate

SOURCES: OMIM MESH MENDELIAN

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

• Micrognathia
• Cleft palate
• Cryptorchidism
• Low-set ears
• Hydrocephalus

SOURCES: ORPHANET MENDELIAN

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

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

SOURCES: ORPHANET OMIM MENDELIAN