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Items: 18

1.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth. [from GeneReviews]

MedGen UID:
424833
Concept ID:
C2936858
Congenital Abnormality
2.

Chondrodysplasia punctata 2 X-linked dominant

The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts. [from GeneReviews]

MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
3.

Sialic acid storage disease, severe infantile type

Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood. [from GeneReviews]

MedGen UID:
203367
Concept ID:
C1096902
Disease or Syndrome
4.

Craniometaphyseal dysplasia, autosomal recessive

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous. [from OMIM]

MedGen UID:
419753
Concept ID:
C2931244
Disease or Syndrome
5.

Lethal congenital contracture syndrome 1

Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603). [from OMIM]

MedGen UID:
344338
Concept ID:
C1854664
Disease or Syndrome
6.

Supernumerary nipple

Presence of more than two nipples. [from HPO]

MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
7.

Pyle metaphyseal dysplasia

Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016). [from OMIM]

MedGen UID:
82704
Concept ID:
C0265294
Disease or Syndrome
8.

Oculocerebrocutaneous syndrome

A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability. [from ORDO]

MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
9.

Hiatus hernia

The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. [from HPO]

MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
10.

Short-limb skeletal dysplasia with severe combined immunodeficiency

An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. [from SNOMEDCT_US]

MedGen UID:
348040
Concept ID:
C1860168
Disease or Syndrome
11.

Ichthyosis-cheek-eyebrow syndrome

Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. [from MONDO]

MedGen UID:
326697
Concept ID:
C1840283
Disease or Syndrome
12.

Familial juvenile hypertrophy of the breast

Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689). [from OMIM]

MedGen UID:
140798
Concept ID:
C0405471
Disease or Syndrome
13.

Galactorrhea

Excessive secretion of breast milk. [from NCI]

MedGen UID:
777088
Concept ID:
C3665358
Disease or Syndrome
14.

Acropectorovertebral dysplasia

Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004). [from OMIM]

MedGen UID:
400262
Concept ID:
C1863307
Disease or Syndrome
15.

Congenital fascial dystrophy

MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
16.

Ophthalmomandibulomelic dysplasia

Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. [from SNOMEDCT_US]

MedGen UID:
331604
Concept ID:
C1833872
Disease or Syndrome
17.

Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995. [from ORDO]

MedGen UID:
316973
Concept ID:
C1832362
Disease or Syndrome
18.

Abnormal thorax morphology

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). [from HPO]

MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
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