Depressed nasal bridge, and Dolichocephaly

Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

• Scoliosis
• Depressed nasal bridge
• Brachydactyly
• Frontal bossing
• Kyphosis

SOURCES: ORPHANET MENDELIAN

• Short stature
• Hypertelorism
• Low-set ears
• Depressed nasal bridge
• Epicanthus

SOURCES: OMIM MENDELIAN

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Scoliosis
• Hypertelorism

SOURCES: OMIM MENDELIAN

Holoprosencephaly associated with mutations in the ZIC2 gene.

• Intellectual disability
• Global developmental delay
• Microcephaly
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM MESH MENDELIAN

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Micrognathia

SOURCES: OMIM ORPHANET MENDELIAN

• Short stature
• Depressed nasal bridge
• Intrauterine growth retardation
• Frontal bossing
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

• Short stature
• Low-set ears
• Motor delay
• Depressed nasal bridge
• Brachydactyly

SOURCES: OMIM MENDELIAN

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

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

SOURCES: OMIM MENDELIAN

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Failure to thrive
• Abnormal facial shape

SOURCES: OMIM MENDELIAN