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Items: 8

1.

LEOPARD syndrome 3

Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML. [from GeneReviews]

MedGen UID:
462321
Concept ID:
C3150971
Disease or Syndrome
2.

Seckel syndrome 2

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). [from OMIM]

MedGen UID:
338264
Concept ID:
C1847572
Disease or Syndrome
3.

Mosaic variegated aneuploidy syndrome 3

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

MedGen UID:
1616382
Concept ID:
C4539839
Disease or Syndrome
4.

Intellectual disability, autosomal dominant 58

MedGen UID:
1648488
Concept ID:
C4748195
Disease or Syndrome
5.

Neurodevelopmental disorder with hypotonia and dysmorphic facies

Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022). [from OMIM]

MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
6.

Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021). [from OMIM]

MedGen UID:
1841073
Concept ID:
C5830437
Mental or Behavioral Dysfunction
7.

Neurofibromatosis, type III, mixed central and peripheral

MedGen UID:
419422
Concept ID:
C2931480
Disease or Syndrome
8.

Few cafe-au-lait spots

The presence of two to five cafe-au-lait macules. [from HPO]

MedGen UID:
870435
Concept ID:
C4024881
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