Short rib-polydactyly syndrome, Verma-Naumoff type

What it is

From: Orphanet

A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abdominal distention · Very frequent (99-80%)

Distention of the abdomen.

Abnormal metaphysis morphology · Very frequent (99-80%)

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.

Abnormal pelvis bone ossification · Very frequent (99-80%)

An abnormality of the formation and mineralization of any bone of the bony pelvis.

Disproportionate short-limb short stature · Very frequent (99-80%)

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

Micromelia · Very frequent (99-80%)

The presence of abnormally small extremities.

Narrow chest · Very frequent (99-80%)

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Short foot · Very frequent (99-80%)

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

Short palm · Very frequent (99-80%)

Short palm.

Short ribs · Very frequent (99-80%)

Reduced rib length.

Short thorax · Very frequent (99-80%)

Reduced inferior to superior extent of the thorax.

Lethal skeletal dysplasia · Very frequent (99-80%)

Respiratory insufficiency · Very frequent (99-80%)

Abnormal cardiovascular system morphology · Frequent (79-30%)

Any structural anomaly of the heart and blood vessels.

Ambiguous genitalia · Frequent (79-30%)

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.

Other findings in the same source

From: Orphanet

Additional reported features include Cleft upper lip (Frequent (79-30%)); Congenital hepatic fibrosis (Frequent (79-30%)); Cryptorchidism (Frequent (79-30%)); Depressed nasal bridge (Frequent (79-30%)); Epicanthus (Frequent (79-30%)); Frontal bossing (Frequent (79-30%)); Hydronephrosis (Frequent (79-30%)); Hydrops fetalis (Frequent (79-30%)); Long philtrum (Frequent (79-30%)); Macrocephaly (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Antenatal; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Prevalence at birth: 1-9 / 100 000; United Arab Emirates; Value and class. Point prevalence: <1 / 1 000 000; United Arab Emirates; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Short rib-polydactyly syndrome, Verma-Naumoff type is Orthopaedics, with a orthopaedic specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Short rib-polydactyly syndrome, Verma-Naumoff type. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.