If present, intellectual impairment is usually mild or moderate, without motor delay, but in 20% of cases it is severe/profound and associated with autistic features. [cags.org.ae]

The present study aimed to identify the pathogenic mutation causing NHS in a three‑generation Chinese family with 4 individuals presenting primarily with congenital cataracts. [spandidos-publications.com]

More than 50% of all cataract presentations at birth or during early childhood have been attributed to a heterogeneous array of genetic conditions [12]. [peertechzpublications.com]

Ocular signs are present in 90% of heterozygous females. These are typically lens opacities often involving the posterior Y sutures. More rarely dental anomalies and the characteristic facial features may also occur. [en.wikipedia.org]

We present a familial NHS associated with translocation t(X;19) (Xp22.13;q13.1). [molecularcytogenetics.biomedcentral.com]

• Short Finger

  Most common hand and foot abnormalities are broad or short fingers and brachymetacarpalia5,12. Sandal gap and partial syndactyly of toes were reported in one Turkish NHS family3. [nature.com]

• Marfanoid Habitus

  Patients have a marfanoid habitus, and males are often blind. Precautions before anesthesia No literature about this condition and anesthesia. Patients may be blind or mentally handicapped. [accessanesthesiology.mhmedical.com]

• Mulberry Molar

  Molars are rounded, globular, and look like lotus flower. Presence of central supernumerary cusp gives them the appearance of mulberry molars. Tapering, screwdriver-shaped incisors look similar to Hutchinson's incisors. [ncbi.nlm.nih.gov]

  Common dental findings include notching of incisors, supernumerary teeth, and mulberry molars. [semanticscholar.org]

  Dental anomalies comprise supernumerary teeth, screwdriver-shaped incisors, “mulberry” molars, and diastema [1,9]. [peertechzpublications.com]

• Hutchinson's Teeth

  Presentation[edit] Dental features:[2] small teeth in males pointed (screwdriver shaped or conical) incisors (sometimes called Hutchinson teeth) incisors with an irregular incisal edge canines: enlarged and globular; may be dome or bud shaped with trilobed [en.wikipedia.org]

  Front teeth (incisors) are tapered and “screwdriver-shaped” or are similar in appearance to a tooth abnormality often associated with congenital syphilis (i.e., Hutchinson’s teeth). [rarediseases.org]

• Poor Oral Hygiene

  Intraoral examination revealed mixed dentition, poor oral hygiene with Simplified Oral Hygiene Index score of 3.2, and class III skeletal and molar relationship with bilateral posterior cross bite and anterior open bite [Figure 2]. [ncbi.nlm.nih.gov]

• Anterior Open Bite

  Intraoral examination revealed mixed dentition, poor oral hygiene with Simplified Oral Hygiene Index score of 3.2, and class III skeletal and molar relationship with bilateral posterior cross bite and anterior open bite [Figure 2]. [ncbi.nlm.nih.gov]

• Hirsutism

  Physical examination was notable for dysmorphic features including narrow and short palpebral fissures, thick upper and lower lip, and bitemporal hirsutism, as well as ataxia. [molecularcytogenetics.biomedcentral.com]

• Dolichocephaly

  Dolichocephaly and mandibular prognathism occur, with a high-nasal bridge, prominent, anteverted pinnae, and short metacarpals. Developmental delay may be seen. Patients have a marfanoid habitus, and males are often blind. [accessanesthesiology.mhmedical.com]

• Long Narrow Face

  They all had a long-narrow face (Fig. 2a), large anteverted and mild enlarged pinnae (Fig. 2b). II1 displayed a bulbous nose (Fig. 2c). [nature.com]

  Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face. [rareguru.com]

  Dysmorphic facial features are usually mild and are often overlooked by ophthalmologists, but include a prominent nose and nasal bridge, a long narrow face, and large anteverted pinnae (2,9). [spandidos-publications.com]

  All affected males had the same craniofacial dysmorphisms (a long, narrow face with a broad base to the nose and a thin nasal bridge). [jzus.zju.edu.cn]

• Mandibular Prognathism

  Individuals display facial dysmorphism, mandibular prognathism, congenital cataract, and strabismus. Common dental findings include notching of incisors, supernumerary teeth, and mulberry molars. [semanticscholar.org]

  Dolichocephaly and mandibular prognathism occur, with a high-nasal bridge, prominent, anteverted pinnae, and short metacarpals. Developmental delay may be seen. Patients have a marfanoid habitus, and males are often blind. [accessanesthesiology.mhmedical.com]

  Facial dysmorphic features include long face, prominent nose and nasal bridge, mandibular prognathism, and large ears with anteverted pinnae and increased folds.[1,2,3,4,5,6] Eye abnormalities include bilateral congenital cataract (100%), microcornea [ncbi.nlm.nih.gov]

  Dysmorphisms include a long face with a prominent nose and nasal bridge, large ears with anteverted and simplex pinnae, mandibular prognathism, and bradymetacarpalia [1,9]. [peertechzpublications.com]

• Amenorrhea

  As a result, the patient’s phenotype reflected aspects of Turner Syndrome (monosomy X) (e.g., primary amenorrhea) [26] and partial trisomy 19 (e.g., cleft palate) [27]. [molecularcytogenetics.biomedcentral.com]

• Behavior Problem

  Other:[2] The fourth metacarpal may be shortened 30% of patients also have some degree of intellectual impairment: of these 80% are mildly to moderately affected: the other 20% may have developmental delays and behavior problems. [en.wikipedia.org]

Under short-term treatment plan, meticulous preventive treatments including preventive resin restorations were given in 36 and 46 and the patient was professionally monitored regularly to reinforce preventive treatments. [ncbi.nlm.nih.gov]

Recommend PFA Fixation and Triton X-100 treatment IHC-P 1/20 - 1/50. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol. Target Function Unknown. [abcam.com]

Without appropriate treatment, clouding of the cornea can lead to total cataracts later in life. Females often have some dental abnormalities, such as abnormally-shaped front teeth and/or unusually wide spaces between some of the teeth. [rareguru.com]

Standard Therapies Treatment The treatment of Nance-Horan syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Treatment and medical care are also important to note. [pubhtml5.com]

Diagnosis and Prognosis: The diagnosis is usually made by an ophthalmologist when cataracts are found in infant boys but the full syndrome will often require collaboration with dental experts and medical geneticists. [disorders.eyes.arizona.edu]

Postsurgical complications are common and include glaucoma, retinal detachment, corneal lesions, and even eyeball atrophy, and visual prognosis remains poor.[6] Dental abnormalities have high diagnostic value and involve both primary and permanent dentition [ncbi.nlm.nih.gov]

Almost all NHS patients undergo cataract extraction but the overall prognosis for vision is still poor, mostly NLP to 0.35,8,9,18,24. Delayed surgical intervention, amblyopia and glaucoma may contribute to the poor visual outcomes. [nature.com]

Figure 7.10) which can have four different etiologies. [pubhtml5.com]

View Article : Google Scholar : PubMed/NCBI 12 Messina-Baas O and Cuevas-Covarrubias S: Inherited congenital cataract: A guide to suspect the genetic etiology in the cataract genesis. Mol Syndromol. 8:58–78. 2017. [spandidos-publications.com]

Molecular characterization of disease-associated translocations is important to identify disease etiology. [molecularcytogenetics.biomedcentral.com]

Pathophysiology Mutations of the NHS gene on the short arm of chromosome X (Xp22.2-p22.1). [accessanesthesiology.mhmedical.com]

Under short-term treatment plan, meticulous preventive treatments including preventive resin restorations were given in 36 and 46 and the patient was professionally monitored regularly to reinforce preventive treatments. [ncbi.nlm.nih.gov]

A variety of methods may be used to treat, prevent, and/or correct eye defects associated with Nance-Horan syndrome, depending upon the specific combination of abnormalities present, their severity, and/or other factors. [rarediseases.org]

Discussion and conclusion Congenital cataract is among the primary drivers of preventable childhood blindness and vision impairment worldwide [11]. [peertechzpublications.com]

Such non-random X-inactivation prevents functional autosomal monosomy from occurring, but increasing the likelihood of X-linked disorders. [molecularcytogenetics.biomedcentral.com]