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autosomal dominant Robinow syndrome 2 (DRS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Short nose, Calvarial osteosclerosis, Thin corpus callosum, and Oligodontia and others; and very common findings: Broad hallux, Hypertelorism, Long philtrum, and Anteverted nares and others. 70 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Cleft palate, Cleft soft palate, Thin upper lip vermilion
Ears	4	Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment
Brain and nerves	3	Seizure, Global developmental delay, Depressed nasal bridge
Bones and joints	3	Calvarial osteosclerosis, Kyphoscoliosis, Sideways curvature of the spine (scoliosis)
Heart and blood vessels	2	Abnormal atrial septum morphology, Ventricular septal defect
Arms and legs	2	Short distal phalanx of finger, Partial duplication of the phalanx of hand
Growth and development	1	Short stature
Lungs and breathing	1	Obstructive sleep apnea
Skin	1	Nail dysplasia
Digestive system	1	Enlarged liver (hepatomegaly)

GeneReviews

Clinical Guidance

Autosomal dominant Robinow syndrome (ADRS) is a skeletal dysplasia in which affected individuals typically have short stature, mesomelic limb shortening (predominantly of the upper limbs), and brachydactyly. A variety of other (variably present) anomalies may also suggest the diagnosis. Facial. Craniofacial features of ADRS are summarized in . These features are most recognizable at birth or in early childhood. The distinctive facial features become less apparent with age.

Source: GeneReviews — "Autosomal Dominant Robinow Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal dominant Robinow syndrome 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with autosomal dominant Robinow syndrome (ADRS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with Autosomal Dominant Robinow Syndrome

System/Concern	Evaluation	Comment
Craniofacial	Clinical assessment for presence of orofacial clefting	Consider referral to craniofacial team Orthodontics consultation
Ears	Hearing assessment	—
Cardiovascular	Echocardiogram	To evaluate for congenital heart defect
Genitourinary	Renal ultrasound	To assess for renal anomalies hydronephrosis Males: assessment for abnormal penile insertion / penoscrotal position cryptorchidism
Musculoskeletal	Radiographs of limbs, chest, vertebrae, skull	To establish the extent of skeletal involvement

Source: GeneReviews — "Autosomal Dominant Robinow Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Autosomal Dominant Robinow Syndrome"

Clinical Trials

View trials for autosomal dominant Robinow syndrome 2

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with Autosomal Dominant Robinow Syndrome

System/Concern	Evaluation	Frequency
Craniofacial	Dental eval	Every 6 mos to 1 yr or per dental professional
Ears	Hearing assessment	In childhood
Cardiovascular	Standard monitoring in those w/cardiac involvement	Per cardiologist
Genitourinary	Standard monitoring in those w/renal involvement	Per urologist
Neurologic	Assessment of developmental progress	At each visit in childhood/adolescence

Source: GeneReviews — "Autosomal Dominant Robinow Syndrome"

Phenotype severity distribution: 21 always present features, 8 very common features, 23 common features.

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autosomal dominant Robinow syndrome 2

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autosomal dominant Robinow syndrome 2

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team