Global developmental delay, and Short neck

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape
• Cryptorchidism

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: MESH OMIM MENDELIAN

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

• Seizures
• Global developmental delay
• Microcephaly
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

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

SOURCES: OMIM MENDELIAN

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

• Global developmental delay
• Short stature
• Scoliosis
• Pain
• Flexion contracture

SOURCES: MESH OMIM ORPHANET MENDELIAN

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

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

SOURCES: OMIM MENDELIAN

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

• Intellectual disability
• Seizures
• Global developmental delay
• Growth delay
• Hypertelorism

SOURCES: ORPHANET MESH MENDELIAN