Facial paresis, hereditary congenital, 3- MedGen UID:
- 766539
- •Concept ID:
- C3553625
- •
- Disease or Syndrome
HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see 601471.
Distal arthrogryposis type 5D- MedGen UID:
- 767329
- •Concept ID:
- C3554415
- •
- Disease or Syndrome
This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia.
For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).
For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).
Orofacial cleft 15- MedGen UID:
- 909661
- •Concept ID:
- C4225209
- •
- Congenital Abnormality
Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
Au-Kline syndrome- MedGen UID:
- 900671
- •Concept ID:
- C4225274
- •
- Disease or Syndrome
Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. Congenital heart disease, hydronephrosis, palate abnormalities, and oligodontia are reported in the majority of affected individuals. Variable autonomic dysfunction (gastrointestinal dysmotility, high pain threshold, heat intolerance, recurrent fevers, abnormal sweating) is found in more than one third of affected individuals. Additional complications can include craniosynostosis, feeding difficulty, vision issues, hearing loss, osteopenia, and other skeletal anomalies. Epilepsy and brain malformations are rare.
Blepharocheilodontic syndrome 2- MedGen UID:
- 1623594
- •Concept ID:
- C4540127
- •
- Disease or Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.
Blepharocheilodontic syndrome 1- MedGen UID:
- 1632198
- •Concept ID:
- C4551988
- •
- Disease or Syndrome
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).
Carey-Fineman-Ziter syndrome 1- MedGen UID:
- 1804638
- •Concept ID:
- C5676876
- •
- Disease or Syndrome
Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016).
Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion.
Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome
Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.
Neuroocular syndrome 1- MedGen UID:
- 1863661
- •Concept ID:
- C5925133
- •
- Disease or Syndrome
Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).
Genetic Heterogeneity of Neuroocular Syndrome
See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.